Ronald J A Wanders

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. ncbi request reprint Characterization of the final step in the conversion of phytol into phytanic acid
    Daan M van den Brink
    Department of Clinical Chemistry and Pediatrics, University of Amsterdam, Academic Medical Center, Emma Children s Hospital, 1105 AZ Amsterdam, The Netherlands
    J Biol Chem 280:26838-44. 2005
  2. doi request reprint Metabolic functions of peroxisomes in health and disease
    Ronald J A Wanders
    University of Amsterdam, Academic Medical Center, Departments of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Laboratory Genetic Metabolic Diseases, Room F0 226, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands Electronic address
    Biochimie 98:36-44. 2014
  3. pmc Genetic basis of hyperlysinemia
    Sander M Houten
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, AZ 1105, The Netherlands
    Orphanet J Rare Dis 8:57. 2013
  4. pmc Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
    Hugh J McMillan
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
    Orphanet J Rare Dis 7:90. 2012
  5. pmc Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
    Catharina M L Touw
    Section of Metabolic Diseases, Beatrix Children s Hospital, University of Groningen, University Medical Centre of Groningen, PO Box 30 001, CA84, 9700 RB, Groningen, The Netherlands
    Orphanet J Rare Dis 7:30. 2012
  6. pmc The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
    Annet M Bosch
    Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 7:83. 2012
  7. pmc X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
    Marc Engelen
    Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 7:51. 2012
  8. ncbi request reprint Peroxisomes in human health and disease: metabolic pathways, metabolite transport, interplay with other organelles and signal transduction
    Ronald J A Wanders
    Laboratory Genetic Metabolic Diseases, Room F0 226, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Subcell Biochem 69:23-44. 2013
  9. ncbi request reprint Peroxisomes, peroxisomal diseases, and the hepatotoxicity induced by peroxisomal metabolites
    Ronald J A Wanders
    Laboratory Genetic Metabolic Diseases, Depts of Clinical Chemistry and Paediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Curr Drug Metab 13:1401-11. 2012
  10. pmc Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
    Caroline Sevin
    Pediatric Neurology and Endocrinology, Hopital St Vincent de Paul, Paris, France
    Orphanet J Rare Dis 6:8. 2011

Detail Information

Publications144 found, 100 shown here

  1. ncbi request reprint Characterization of the final step in the conversion of phytol into phytanic acid
    Daan M van den Brink
    Department of Clinical Chemistry and Pediatrics, University of Amsterdam, Academic Medical Center, Emma Children s Hospital, 1105 AZ Amsterdam, The Netherlands
    J Biol Chem 280:26838-44. 2005
    ..With these findings, we have accomplished the full elucidation of the mechanism by which phytol is converted into phytanic acid...
  2. doi request reprint Metabolic functions of peroxisomes in health and disease
    Ronald J A Wanders
    University of Amsterdam, Academic Medical Center, Departments of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Laboratory Genetic Metabolic Diseases, Room F0 226, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands Electronic address
    Biochimie 98:36-44. 2014
    ....
  3. pmc Genetic basis of hyperlysinemia
    Sander M Houten
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, AZ 1105, The Netherlands
    Orphanet J Rare Dis 8:57. 2013
    ..To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia...
  4. pmc Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
    Hugh J McMillan
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
    Orphanet J Rare Dis 7:90. 2012
    ..Here we report two brothers (16½ and 14 years old) with DBP deficiency characterized by normal early childhood followed by sensorineural hearing loss, progressive cerebellar and sensory ataxia and subclinical retinitis pigmentosa...
  5. pmc Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
    Catharina M L Touw
    Section of Metabolic Diseases, Beatrix Children s Hospital, University of Groningen, University Medical Centre of Groningen, PO Box 30 001, CA84, 9700 RB, Groningen, The Netherlands
    Orphanet J Rare Dis 7:30. 2012
    ..It could be hypothesised that residual MCAD enzyme activity can contribute in risk stratification of subjects with variant ACADM genotypes...
  6. pmc The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
    Annet M Bosch
    Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 7:83. 2012
    ..Clinical improvement may be rapid or gradual over a period of more than 12 months...
  7. pmc X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
    Marc Engelen
    Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 7:51. 2012
    ..This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder...
  8. ncbi request reprint Peroxisomes in human health and disease: metabolic pathways, metabolite transport, interplay with other organelles and signal transduction
    Ronald J A Wanders
    Laboratory Genetic Metabolic Diseases, Room F0 226, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Subcell Biochem 69:23-44. 2013
    ..The current state of knowledge in this area will be discussed in this review. ..
  9. ncbi request reprint Peroxisomes, peroxisomal diseases, and the hepatotoxicity induced by peroxisomal metabolites
    Ronald J A Wanders
    Laboratory Genetic Metabolic Diseases, Depts of Clinical Chemistry and Paediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Curr Drug Metab 13:1401-11. 2012
    ..The implications of these findings will be discussed with special emphasis on patients with di- and trihydroxycholestanoic acidaemia...
  10. pmc Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
    Caroline Sevin
    Pediatric Neurology and Endocrinology, Hopital St Vincent de Paul, Paris, France
    Orphanet J Rare Dis 6:8. 2011
    ..To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA)...
  11. pmc A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report
    Anne Frédérique Dessein
    Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism Nutrition and Oncology, Center of Biology and Pathology Pierre Marie Degand, CHRU Lille, 59037 Lille, France
    Orphanet J Rare Dis 5:26. 2010
    ....
  12. ncbi request reprint The peroxisomal ABC transporter family
    Ronald J A Wanders
    Department of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands
    Pflugers Arch 453:719-34. 2007
    ..The availability of mutant mice in which Abcd1, Abcd2, or Abcd3 have been disrupted will help to resolve the true role of the peroxisomal half-ABC transporters...
  13. pmc The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
    Ronald J A Wanders
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 33:479-94. 2010
    ..In this review, we will describe the current state of knowledge in the field of fatty acid oxidation enzymology and its application to the follow-up analysis of positive neonatal screening results...
  14. ncbi request reprint Peroxisomal disorders: the single peroxisomal enzyme deficiencies
    Ronald J A Wanders
    Academic Medical Centre, University of Amsterdam, Netherlands
    Biochim Biophys Acta 1763:1707-20. 2006
    ....
  15. doi request reprint Peroxisomes, lipid metabolism and lipotoxicity
    R J A Wanders
    University of Amsterdam, Academic Medical Center, Department of Clinical Chemistry, Laboratory of Genetic Metabolic Diseases, and Department of Pediatrics, Emma Children s Hospital, Laboratory of Genetic Metabolic Diseases, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Biochim Biophys Acta 1801:272-80. 2010
    ....
  16. ncbi request reprint Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights
    Ronald J A Wanders
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, Emma Children s Hospital Laboratory for Genetic and Metabolic Disease, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Adv Exp Med Biol 544:293-302. 2003
  17. ncbi request reprint Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid
    R J A Wanders
    Genetic Metabolic Diseases Laboratory, Room F0 224, Departments of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Biochem Soc Trans 35:865-9. 2007
    ..In patients suffering from ARD, phytanic acid accumulates in tissues and body fluids due to a defect in the alpha-oxidation system...
  18. ncbi request reprint Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders
    R J A Wanders
    Department of Pediatrics, Academic Medical Centre, Emma Children s Hospital, University of Amsterdam, Amsterdam, The Netherlands
    Clin Genet 67:107-33. 2005
    ..Less progress has been made with respect to the pathophysiology and therapy of PBDs. The increasing availability of mouse models for these disorders is a major step forward in this respect...
  19. ncbi request reprint Peroxisomes, lipid metabolism, and peroxisomal disorders
    R J A Wanders
    Laboratory for Genetic Metabolic Diseases, Department of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, Emma Children s Hospital, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Mol Genet Metab 83:16-27. 2004
    ..Finally, the current state of knowledge with respect to the different disorders of peroxisomal lipid metabolism will be described...
  20. ncbi request reprint Metabolic and molecular basis of peroxisomal disorders: a review
    Ronald J A Wanders
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, Emma Children s Hospital, Laboratory of Genetic Metabolic Diseases, Amsterdam, The Netherlands
    Am J Med Genet A 126:355-75. 2004
    ..A review of peroxisomal disorders is provided in this paper...
  21. pmc Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway
    Ronald J A Wanders
    Head Lab Genetic Metabolic Diseases, Room F0 226 Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:5-12. 2012
    ..In this paper, we describe the current state of knowledge with respect to the enzymology of the valine oxidation pathway and the different disorders affecting oxidation...
  22. doi request reprint Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans
    Ronald J A Wanders
    Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    FEBS J 278:182-94. 2011
    ..In this minireview, we describe our current state of knowledge in this area with special emphasis on Refsum disease and X-linked adrenoleukodystrophy...
  23. ncbi request reprint Biochemistry of mammalian peroxisomes revisited
    Ronald J A Wanders
    Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Disease, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    Annu Rev Biochem 75:295-332. 2006
    ....
  24. doi request reprint Phytanic acid metabolism in health and disease
    Ronald J A Wanders
    Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Biochim Biophys Acta 1811:498-507. 2011
    ..Finally, we present new data on the omega-oxidation of phytanic acid making use of a recently generated mouse model for Refsum disease in which the gene encoding phytanoyl-CoA 2-hydroxylase has been disrupted...
  25. ncbi request reprint Phytanic acid alpha-oxidation, new insights into an old problem: a review
    Ronald J A Wanders
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics Emma Children s Hospital and Clinical Chemistry, Academic Medical Centre, University Hospital Amsterdam, Room F0 224, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochim Biophys Acta 1631:119-35. 2003
    ..This Review describes the current state of knowledge about fatty acid alpha-oxidation in mammals with particular emphasis on the mechanism involved and the enzymology of the pathway...
  26. ncbi request reprint Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice
    Sacha Ferdinandusse
    Academic Medical Center, Laboratory of Genetic Metabolic Diseases, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands
    J Biol Chem 280:18658-66. 2005
    ..The nuclear receptors hepatocyte nuclear factor-4alpha, farnesoid X receptor, and peroxisome proliferator receptor alpha did not appear to be involved in the up-regulation of the transferase...
  27. pmc Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis
    Sacha Ferdinandusse
    Laboratory Genetic Metabolic Diseases, Academic Medical Center at University of Amsterdam, Amsterdam, The Netherlands
    Am J Hum Genet 78:112-24. 2006
    ..From our data, we conclude that, on the basis of the predicted effect of the mutations on protein structure, a genotype-phenotype correlation exists for DBP deficiency...
  28. ncbi request reprint Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency
    Sacha Ferdinandusse
    Laboratory Genetic Metabolic Diseases, Academic Medical Center at the University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 28:904-12. 2007
    ....
  29. ncbi request reprint X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
    Peter G Barth
    Department of Pediatric Neurology, Emma Children s Hospital AMC, University of Amsterdam, Amsterdam, The Netherlands
    Am J Med Genet A 126:349-54. 2004
    ..The apex of the survival curve around puberty and the emergence of adults may reflect a dynamic shift towards increased survival. This trend is exemplified in a large pedigree previously published...
  30. doi request reprint Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation
    Carlo W T van Roermund
    Department of Pediatrics, Academic Medical Centre, University of Amsterdam, The Netherlands
    Biochim Biophys Acta 1811:148-52. 2011
    ....
  31. ncbi request reprint Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism
    Frederic M Vaz
    Departments of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    J Biol Chem 278:43089-94. 2003
    ..We conclude that this splice variant most likely represents the only physiologically important mRNA, at least with regard to cardiolipin metabolism...
  32. ncbi request reprint Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
    Fredoen Valianpour
    Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    J Lipid Res 46:1182-95. 2005
    ....
  33. ncbi request reprint Clinical and biochemical spectrum of D-bifunctional protein deficiency
    Sacha Ferdinandusse
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Emma Children s Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Ann Neurol 59:92-104. 2006
    ..Although case reports and small series of patients have been published, these do not give a complete and balanced picture of the clinical and biochemical spectrum associated with this disorder...
  34. ncbi request reprint Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism
    Jeannette Gootjes
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands
    Hum Mutat 24:130-9. 2004
    ....
  35. ncbi request reprint Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation
    Malika Chegary
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases F0 222, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Mol Genet Metab 93:403-10. 2008
    ..Therefore, we conclude that in intact cells L-AC inhibits CPT2. Combined with our observation that l-AC does not activate PPAR, we suggest that L-AC is useful to simulate a FAO defect in cells from different origin...
  36. pmc Identification of PEX7 as the second gene involved in Refsum disease
    Daan M van den Brink
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Am J Hum Genet 72:471-7. 2003
    ....
  37. ncbi request reprint Identification of PEX7 as the second gene involved in Refsum disease
    Daan M van den Brink
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Adv Exp Med Biol 544:69-70. 2003
  38. ncbi request reprint Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata
    Pedro Brites
    Academic Medical Center, Laboratory of Genetic Metabolic Diseases F0 224, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands
    Hum Mol Genet 12:2255-67. 2003
    ..These findings demonstrate that Pex7 knockout mice provide an important model to study the role of peroxisomal functioning in the pathogenesis of the human disorder...
  39. doi request reprint Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines
    Merel S Ebberink
    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 30:93-8. 2009
    ..The location of the different mutations within the PEX5 amino acid sequence correlates rather well with the peroxisomal protein import defect observed in the cell lines...
  40. ncbi request reprint Fatty acid oxidation in the human fetus: implications for fetal and adult disease
    Nadia A Oey
    Department of Pediatrics, G8 205, Emma Children s Hospital AMC, Academic Medical Centre, PO Box 22660, NL 1100 DD, Amsterdam, The Netherlands
    J Inherit Metab Dis 29:71-5. 2006
    ..Finally, there are indications that regulation of activity of FAO during fetal development might not only be important for fetal life but may also have implications for health and disease in adulthood...
  41. ncbi request reprint The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters
    Carlo W T van Roermund
    Lab Genetic Metabolic Diseases, Rm F0 226, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    FASEB J 22:4201-8. 2008
    ..Our data indicate that ALDP can function as a homodimer and is involved in the transport of acyl-CoA esters across the peroxisomal membrane...
  42. pmc Metabolite transport across the peroxisomal membrane
    Wouter F Visser
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, F0 224, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
    Biochem J 401:365-75. 2007
    ..The nature of the substrates handled by the different ABC transporters is less clear. In this review we will describe the current state of knowledge of the permeability properties of the peroxisomal membrane...
  43. ncbi request reprint A lethal defect of mitochondrial and peroxisomal fission
    Hans R Waterham
    Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
    N Engl J Med 356:1736-41. 2007
    ..Overexpression of the mutant DLP1 in control cells reproduced the fission defect. Our findings are representative of a class of disease characterized by defects in both mitochondria and peroxisomes...
  44. ncbi request reprint The peroxisomal lumen in Saccharomyces cerevisiae is alkaline
    Carlo W T van Roermund
    Department of Clinical Chemistry, University of Amsterdam, Academic Medical Centre, PO Box 22700, 1100 DE, Amsterdam, The Netherlands
    J Cell Sci 117:4231-7. 2004
    ..1+/-0.2 in pxa2 Delta cells. Our combined results suggest that the proton gradient across the peroxisomal membrane is dependent on Ant1p activity and required for the beta-oxidation of medium chain fatty acids...
  45. doi request reprint Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands
    Pediatr Res 67:304-8. 2010
    ..As our study could not demonstrate a clinically relevant effect of riboflavin, general use of riboflavin cannot be recommended...
  46. pmc Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation
    Marc Engelen
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:1137-45. 2012
    ..Taken together, our data indicate bezafibrate as a potential pharmacotherapeutic treatment for X-ALD. A clinical trial is currently ongoing to evaluate the effect in patients with X-ALD...
  47. ncbi request reprint Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy
    Robert Jan Sanders
    Laboratory of Genetic Metabolic Diseases, University of Amsterdam, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands
    J Biol Chem 281:13180-7. 2006
    ....
  48. ncbi request reprint Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts
    Fredoen Valianpour
    Department of Clinical Chemistry, The Department of Pediatrics, Emma Children s Hospital, and Laboratory Neurozintuigen, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Pediatr 141:729-33. 2002
    ..Therefore the analysis of cardiolipin in fibroblasts offers a specific biochemical approach to detect this disorder...
  49. ncbi request reprint Human mevalonate pyrophosphate decarboxylase is localized in the cytosol
    Sietske Hogenboom
    Laboratory of Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 81:216-24. 2004
    ..Our results do not support a central role of peroxisomes in the isoprenoid/cholesterol biosynthetic pathway...
  50. ncbi request reprint Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency
    András N Spaan
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases F0 224, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Mol Genet Metab 86:441-7. 2005
    ..Candidates for mutations in the MFT gene are patients with a clinical suspicion of MADD but without any mutation in the alpha- or beta-subunit of ETF or ETF-DH...
  51. doi request reprint Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids
    Robert Jan Sanders
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
    FASEB J 22:2064-71. 2008
    ..Overall, our data demonstrate that in humans all enzymes are present for the complete conversion of VLCFAs to their corresponding very-long-chain dicarboxylic acids...
  52. doi request reprint A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene
    Merel S Ebberink
    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Med Genet 49:307-13. 2012
    ..Defects in any of these proteins result in a peroxisome biogenesis disorder. The authors present here a novel genetic defect specifically affecting the division of peroxisomes...
  53. ncbi request reprint Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    JAMA 296:943-52. 2006
    ..Screening for SCADD is included in expanded newborn screening programs in most US and Australian states...
  54. ncbi request reprint Long-chain fatty acid oxidation during early human development
    Nadia A Oey
    Department of Pediatrics, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    Pediatr Res 57:755-9. 2005
    ..The observed pattern of expression during early human development is well in line with the spectrum of clinical signs and symptoms reported in patients with VLCAD or LCHAD/MTP deficiency...
  55. ncbi request reprint Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts
    Sietske Hogenboom
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 80:290-5. 2003
    ..Our results imply that functional peroxisomes are not a prerequisite for the functioning of enzymes involved in cholesterol/isoprenoid biosynthesis and as such raise doubts about the true involvement of peroxisomes therein...
  56. ncbi request reprint Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency
    Sacha Ferdinandusse
    Department of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    Mol Genet Metab 79:281-7. 2003
    ..In conclusion, we have found clear evidence for the presence of increased oxidative stress in patients with D-BP deficiency, but not in patients with a PBD...
  57. ncbi request reprint Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
    Bwee Tien Poll-The
    Department of Pediatrics, Emma Children s Hospital, Amsterdam, The Netherlands
    Am J Med Genet A 126:333-8. 2004
    ..2097insT group. This indicates that next to the PEX1 genotype other yet unknown factors determine the ultimate phenotype...
  58. ncbi request reprint Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids
    Sacha Ferdinandusse
    Departments of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Lipid Res 45:1104-11. 2004
    ..This is the first indication of a specific function for LBP, which has remained elusive until now...
  59. ncbi request reprint Biochemical markers predicting survival in peroxisome biogenesis disorders
    Jeannette Gootjes
    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Adv Exp Med Biol 544:67-8. 2003
  60. ncbi request reprint Mevalonate kinase is a cytosolic enzyme in humans
    Sietske Hogenboom
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, Amsterdam
    J Cell Sci 117:631-9. 2004
    ..No indication of a peroxisomal localisation was obtained. Our results do not support a central role for peroxisomes in isoprenoid biosynthesis...
  61. pmc Ataxia with loss of Purkinje cells in a mouse model for Refsum disease
    Sacha Ferdinandusse
    Academic Medical Center, Department of Clinical Chemistry Laboratory of Genetic Metabolic Diseases, Emma s Children Hospital, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    Proc Natl Acad Sci U S A 105:17712-7. 2008
    ..Our results show that, in the mouse, high phytanic acid levels cause a peripheral neuropathy and ataxia with loss of Purkinje cells. These findings provide important insights in the pathophysiology of Refsum disease...
  62. pmc Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids
    Sander M Houten
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Lipid Res 53:1296-303. 2012
    ..We conclude that Ehhadh is indispensable for the production of medium-chain dicarboxylic acids, providing an explanation for the coordinated induction of mitochondrial and peroxisomal oxidative pathways during fasting...
  63. pmc Peroxisomal fatty acid uptake mechanism in Saccharomyces cerevisiae
    Carlo W T van Roermund
    Departments of Pediatrics and Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    J Biol Chem 287:20144-53. 2012
    ..Importantly, the Pxa1p-Pxa2p complex shares this molecular mechanism with HsABCD1 and HsABCD2...
  64. ncbi request reprint Studies on the metabolic fate of n-3 polyunsaturated fatty acids
    Sacha Ferdinandusse
    Departments of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    J Lipid Res 44:1992-7. 2003
    ..This DHA-CoA then preferentially moves back, probably as free fatty acid, to the ER, where it is incorporated into membrane lipids...
  65. ncbi request reprint Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
    Stephan Kemp
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics Emma Children s Hospital and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands
    Mol Genet Metab 84:144-51. 2005
    ..We also conclude that chain elongation offers an interesting target to be studied as a possible mode of treatment for X-ALD and other peroxisomal beta-oxidation disorders...
  66. ncbi request reprint Identification and characterization of human cardiolipin synthase
    Riekelt H Houtkooper
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Academic Medical Center, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    FEBS Lett 580:3059-64. 2006
    ..The possible implications for CL synthesis and remodeling are discussed...
  67. ncbi request reprint A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency
    Jolein Gloerich
    University of Amsterdam, Academic Medical Center, Department of Clinical Chemistry, Laboratory for Genetic Metabolic Diseases F0 224, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    J Lipid Res 44:640-4. 2003
    ..This newly developed assay to measure D-BP dehydrogenase activity in fibroblast homogenates provides a quick and reliable method to assign patients with deficient D-BP HY activity to the D-BP deficiency subgroups type I or type II...
  68. doi request reprint Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene
    Merel S Ebberink
    Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics Emma Children s Hospital, Amsterdam, The Netherlands
    J Med Genet 47:608-15. 2010
    ..Fibroblasts from these patients displayed a defect in the import of peroxisomal matrix and membrane proteins, resulting in a total absence of peroxisomal remnants...
  69. ncbi request reprint Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver
    Jeannette Gootjes
    Laboratory Genetic Metabolic Diseases and the Department of Pediatrics Emma Children s Hospital, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Adv Exp Med Biol 544:107-11. 2003
  70. ncbi request reprint Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid
    Daan M van den Brink
    Department of Clinical Chemistry, University of Amsterdam, Academic Medical Center, Emma Children s Hospital, The Netherlands
    Mol Genet Metab 82:33-7. 2004
    ..In addition, fibroblast homogenates of these patients, incubated with phytol in the presence of NAD+ did not produce any phytenic acid. This indicates that FALDH is involved in the breakdown of phytol...
  71. pmc Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 33:507-11. 2010
    ..More studies are needed to fully establish the relevance of SCADD and solve the question as to whether SCADD is involved in a multifactorial disease or represents a nondisease...
  72. pmc The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy
    Rob Ofman
    Academic Medical Center, Departments of Pediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands
    EMBO Mol Med 2:90-7. 2010
    ..Given the likely pathogenic effects of high C26:0 levels, our findings highlight the potential of modulating ELOVL1 activity in the treatment of X-ALD...
  73. ncbi request reprint Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid
    Stephan Kemp
    University of Amsterdam, Academic Medical Center, Department of Pediatrics Emma Children s Hospital, Laboratory for Genetic Metabolic Diseases, The Netherlands
    Clin Chem 50:1824-6. 2004
  74. pmc Mitochondrial long chain fatty acid beta-oxidation in man and mouse
    Malika Chegary
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Biochim Biophys Acta 1791:806-15. 2009
    ..Our findings open new avenues to employ the existing mouse models to study the pathophysiology of human FAO defects...
  75. ncbi request reprint Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis
    Sietske Hogenboom
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics Emma Children s Hospital, Amsterdam, The Netherlands
    Adv Exp Med Biol 544:329-30. 2003
  76. doi request reprint Plasmalogens participate in very-long-chain fatty acid-induced pathology
    Pedro Brites
    Academic Medical Center, Lab GMZ F0 224, Amsterdam, The Netherlands
    Brain 132:482-92. 2009
    ..Nervous tissue deficient in plasmalogens is more prone to damage, illustrating the importance of plasmalogens in peroxisomal disorders including Zellweger syndrome and X-linked adrenoleukodystrophy...
  77. ncbi request reprint Clinical implications of mutation analysis in primary hyperoxaluria type 1
    Christiaan S van Woerden
    Emma Children s Hospital AMC, Amsterdam, The Netherlands
    Kidney Int 66:746-52. 2004
    ..The aim of this study was to determine this association in order to find clues for improvement of patient care...
  78. doi request reprint Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients
    Merel S Ebberink
    University of Amsterdam, Academic Medical Center, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
    Hum Mutat 31:E1058-70. 2010
    ..We analyzed the PEX6 genes of 75 patients assigned to the PEX6 complementation group. We identified a total of 77 different mutations of which 47 mutations have not been reported previously, and 14 polymorphic variants...
  79. ncbi request reprint Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases
    Bwee Tien Poll-The
    Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Mol Genet Metab 81:295-9. 2004
    ..All patients with MHBD deficiency identified so far are characterized by a neurologic phenotype rather than ketoacidotic attacks, unlike patients with the related isoleucine defect beta-ketothiolase deficiency...
  80. ncbi request reprint Measurement of carnitine biosynthesis enzyme activities by tandem mass spectrometry: differences between the mouse and the rat
    Naomi van Vlies
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    Anal Biochem 354:132-9. 2006
    ..Also, muscle carnitine levels were found to vary considerably between these two species, suggesting that there is a metabolic dissimilarity between the mouse and the rat...
  81. pmc Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1
    Alison M Motley
    Departments of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Am J Hum Genet 70:612-24. 2002
    ..This was confirmed in vitro by expression of the eight-nucleotide duplication-containing sequence fused in different reading frames to the coding sequence of firefly luciferase in COS cells...
  82. ncbi request reprint Biochemical markers predicting survival in peroxisome biogenesis disorders
    J Gootjes
    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, The Netherlands
    Neurology 59:1746-9. 2002
    ..To identify prognostic markers reflecting the extent of peroxisome dysfunction in primary skin fibroblasts from patients with peroxisome biogenesis disorders (PBD)...
  83. ncbi request reprint Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients
    Fredoen Valianpour
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Emma Children s Hospital, 1100 DE Amsterdam, The Netherlands
    Clin Chem 48:1390-7. 2002
    ..We investigated whether the analysis of CL in platelets might help to identify BTHS in patients suspected of having this condition...
  84. ncbi request reprint Phosphomevalonate kinase is a cytosolic protein in humans
    Sietske Hogenboom
    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    J Lipid Res 45:697-705. 2004
    ..No indication of a peroxisomal localization was obtained. Our results do not support a central role of peroxisomes in isoprenoid biosynthesis...
  85. pmc 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene
    Rob Ofman
    Department of Clinical Chemistry, Academic Medical Center, Emma Children s Hospital, University of Amsterdam, The Netherlands
    Am J Hum Genet 72:1300-7. 2003
    ..Heterologous expression of the mutant cDNAs in Escherichia coli showed that both mutations almost completely abolish enzyme activity. This confirms that MHBD deficiency is caused by mutations in the HADH2 gene...
  86. pmc Demonstration and characterization of phosphate transport in mammalian peroxisomes
    Wouter F Visser
    Laboratory of Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Biochem J 389:717-22. 2005
    ..The transporter can be distinguished from the mitochondrial phosphate transporter by its different sensitivity to inhibitors...
  87. pmc 3-Methylglutaconic aciduria type I is caused by mutations in AUH
    Lodewijk IJlst
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Am J Hum Genet 71:1463-6. 2002
    ..Mutation analysis of AUH in two patients revealed a nonsense mutation (R197X) and a splice-site mutation (IVS8-1G-->A), demonstrating that mutations in AUH cause 3-methylglutaconic aciduria type I...
  88. ncbi request reprint Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders
    S Ferdinandusse
    University of Amsterdam, Academic Medical Center, Department of Clinical Chemistry, Amsterdam, The Netherlands
    J Lipid Res 43:438-44. 2002
    ....
  89. ncbi request reprint Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis
    Sietske Hogenboom
    Laboratory for Genetic Metabolic Diseases F0 224, Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    J Lipid Res 43:90-8. 2002
    ..Our data provide an explanation for the conflicting findings in the literature and show that great care should be taken in the interpretation of data obtained in postmortem material...
  90. ncbi request reprint Comparison of kinome profiles of Barrett's esophagus with normal squamous esophagus and normal gastric cardia
    Jantine W P M van Baal
    Department of Cell Biology, University of Groningen, Groningen, The Netherlands
    Cancer Res 66:11605-12. 2006
    ..These unique findings provide novel insight in the pathogenesis of Barrett's esophagus that will ultimately help to resolve the increasing problem of Barrett's esophagus and prevention of esophageal adenocarcinoma...
  91. ncbi request reprint X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment
    Stephan Kemp
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Mol Genet Metab 90:268-76. 2007
    ..This paper provides an overview of current knowledge and the problems that have been encountered...
  92. doi request reprint Toxicity of peroxisomal C27-bile acid intermediates
    Sacha Ferdinandusse
    Laboratory Genetic Metabolic Diseases, Academic Medical Center at the University of Amsterdam, Amsterdam, The Netherlands
    Mol Genet Metab 96:121-8. 2009
    ..In addition, C(27)-bile acids are potent inhibitors of oxidative phosphorylation and enhance mitochondrial ROS production by inhibiting the respiratory chain...
  93. ncbi request reprint Alpha-oxidation
    Gerbert A Jansen
    Bioinformatics Laboratory, Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Centre, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    Biochim Biophys Acta 1763:1403-12. 2006
    ..Instead, the terminal carboxyl group is first removed by alpha-oxidation. The mechanism of the alpha-oxidation pathway and the enzymes involved are described in this review...
  94. doi request reprint Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy
    Sacha Ferdinandusse
    Laboratory Genetic Metabolic Diseases, F0 220, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 81:310-2. 2010
    ..Magnetic resonance brain imaging revealed profound atrophy of the brainstem and cerebellum...
  95. ncbi request reprint Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement
    Margarethe E J den Boer
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands
    J Pediatr 142:684-9. 2003
    ....
  96. ncbi request reprint Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry
    Frederic M Vaz
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children s Hospital, PO Box 22700, 1100 DE Amsterdam, The Netherlands
    Clin Chem 48:826-34. 2002
    ..In addition, we investigated whether newborns are capable of carnitine synthesis from deuterium-labeled N(6)-trimethyllysine...
  97. pmc Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene
    Hans R Waterham
    Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    Am J Hum Genet 72:1013-7. 2003
    ..The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huët anomaly represents the heterozygous state of 3beta-hydroxysterol delta(14)-reductase deficiency...
  98. ncbi request reprint Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7)
    Gerbert A Jansen
    Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 23:209-18. 2004
    ..Interestingly, Refsum disease is genetically heterogeneous; two genes, PHYH (also named PAHX) and PEX7, have been identified to cause Refsum disease, as reviewed in this work...
  99. pmc Bile acids: the role of peroxisomes
    Sacha Ferdinandusse
    Laboratory of Genetic Metabolic Diseases, Academic Medical Center at the University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    J Lipid Res 50:2139-47. 2009
    ..We will show the results of bile acid measurements in several tissues from patients, including brain, and we will discuss the toxicity and the pathological effects of the abnormal bile acids...
  100. doi request reprint Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Pediatr 156:121-7. 2010
    ..To gain insight into the pathophysiological and clinical consequences of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD)...
  101. ncbi request reprint Phytanic acid: production from phytol, its breakdown and role in human disease
    D M van den Brink
    Laboratory of Genetic Metabolic Diseases F0 224, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Cell Mol Life Sci 63:1752-65. 2006
    ..This review will centre on this research on phytanic acid: its origin, the mechanism by which its alpha-oxidation takes place, its role in human disease and the way it is produced from phytol...