Piero Rinaldo

Summary

Affiliation: Mayo Clinic
Country: USA

Publications

  1. ncbi request reprint Clinical biochemical genetics in the twenty-first century
    P Rinaldo
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Acta Paediatr Suppl 93:22-6; discussion 27. 2004
  2. ncbi request reprint Making the case for objective performance metrics in newborn screening by tandem mass spectrometry
    Piero Rinaldo
    Biochemical Genetics Laboratory, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Ment Retard Dev Disabil Res Rev 12:255-61. 2006
  3. ncbi request reprint Fatty acid transport and mitochondrial oxidation disorders
    P Rinaldo
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Semin Liver Dis 21:489-500. 2001
  4. ncbi request reprint Fatty acid oxidation disorders
    Piero Rinaldo
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Biochemical Genetics Laboratory, Rochester, Minnesota 55905, USA
    Annu Rev Physiol 64:477-502. 2002
  5. ncbi request reprint Recent developments and new applications of tandem mass spectrometry in newborn screening
    Piero Rinaldo
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Curr Opin Pediatr 16:427-33. 2004
  6. doi request reprint Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing
    Emily H Smith
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
    Mol Genet Metab 100:241-50. 2010
  7. doi request reprint Enhanced interpretation of newborn screening results without analyte cutoff values
    Gregg Marquardt
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA
    Genet Med 14:648-55. 2012
  8. doi request reprint Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry
    Coleman T Turgeon
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 56:1686-95. 2010
  9. ncbi request reprint Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia
    Carla Z Minutti
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    J Clin Endocrinol Metab 89:3687-93. 2004
  10. doi request reprint Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry
    Silvia Tortorelli
    Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine, Rochester, MN 55905, USA
    J Pediatr 157:271-5. 2010

Detail Information

Publications52

  1. ncbi request reprint Clinical biochemical genetics in the twenty-first century
    P Rinaldo
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Acta Paediatr Suppl 93:22-6; discussion 27. 2004
    ....
  2. ncbi request reprint Making the case for objective performance metrics in newborn screening by tandem mass spectrometry
    Piero Rinaldo
    Biochemical Genetics Laboratory, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Ment Retard Dev Disabil Res Rev 12:255-61. 2006
    ..On the basis of our experience, we propose the following targets as evidence of adequate analytical and postanalytical performance: detection rate 1:3,000 or higher, positive predictive value>20%, and false positive rate<0.3%...
  3. ncbi request reprint Fatty acid transport and mitochondrial oxidation disorders
    P Rinaldo
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Semin Liver Dis 21:489-500. 2001
    ..Although our understanding of these new disorders is still incomplete, they nevertheless appear to have a more than casual relationship with acute liver failure in pediatric patients...
  4. ncbi request reprint Fatty acid oxidation disorders
    Piero Rinaldo
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Biochemical Genetics Laboratory, Rochester, Minnesota 55905, USA
    Annu Rev Physiol 64:477-502. 2002
    ..This review addresses the normal process of mitochondrial fatty acid beta-oxidation and discusses the clinical, metabolic, and molecular aspects of more than 20 known inherited diseases of this pathway that have been described to date...
  5. ncbi request reprint Recent developments and new applications of tandem mass spectrometry in newborn screening
    Piero Rinaldo
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Curr Opin Pediatr 16:427-33. 2004
    ..To summarize recent developments in the field of newborn screening related to the use of tandem mass spectrometry as an analytic platform...
  6. doi request reprint Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing
    Emily H Smith
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
    Mol Genet Metab 100:241-50. 2010
    ....
  7. doi request reprint Enhanced interpretation of newborn screening results without analyte cutoff values
    Gregg Marquardt
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA
    Genet Med 14:648-55. 2012
    ..To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries...
  8. doi request reprint Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry
    Coleman T Turgeon
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 56:1686-95. 2010
    ..To improve this situation, we developed a method for the detection of tHCY, MMA, and MCA in dried blood spots (DBSs) by liquid chromatography-tandem mass spectrometry (LC-MS/MS)...
  9. ncbi request reprint Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia
    Carla Z Minutti
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    J Clin Endocrinol Metab 89:3687-93. 2004
    ..This would prevent unnecessary blood draws, medical evaluations, and stress to families...
  10. doi request reprint Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry
    Silvia Tortorelli
    Department of Laboratory Medicine and Pathology, Mayo Clinic School of Medicine, Rochester, MN 55905, USA
    J Pediatr 157:271-5. 2010
    ..To validate a 2-tier approach for newborn screening (NBS) of remethylation defects...
  11. doi request reprint Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)
    Devin Oglesbee
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 54:542-9. 2008
    ..To improve the specificity of newborn screening for MSUD and to reduce the number of diet-related false-positive results, we developed a LC-MS/MS method for quantifying allo-Ile...
  12. doi request reprint Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots
    Coleman Turgeon
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 54:657-64. 2008
    ..To overcome these problems, we developed a new assay that simultaneously determines acylcarnitines (AC), amino acids (AA), and SUAC in dried blood spots (DBS) by flow injection tandem mass spectrometry (MS/MS)...
  13. ncbi request reprint Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification
    Regina Ensenauer
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Genet Med 7:339-43. 2005
    ..The common MCAD gene (ACADM) mutation 985A>G (p.K329E), accounting for the majority of cases in Caucasians, has not been detected in this ethnic group, and the spectrum of ACADM mutations has remained unknown...
  14. doi request reprint Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy
    Coleman T Turgeon
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mol Genet Metab 114:46-50. 2015
    ..We describe a high-throughput method for measurement of C20-C26 lysophosphatidylcholines (LPCs) and biochemical diagnosis of X-ALD using the same dried blood spots (DBS) routinely used for newborn screening...
  15. ncbi request reprint Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I
    Mark J Magera
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mol Genet Metab 88:16-21. 2006
    ..Succinylacetone (SUAC) is a specific marker for TYR 1 but not detectable by routine newborn screening. We developed a new assay that determines SUAC in DBS by liquid-chromatography tandem mass spectrometry (LC-MS/MS)...
  16. doi request reprint Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry
    Silvia Tortorelli
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
    Clin Chem 62:1248-54. 2016
    ..We developed an efficient and cost-effective multiplex assay to diagnose six LSDs and several peroxisomal disorders in patients presenting with diverse phenotypes at any age...
  17. pmc High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood
    Devin Oglesbee
    Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, and
    Clin Chem 59:1461-9. 2013
    ..To facilitate the diagnosis and monitoring of FRDA patients, we developed an immunoassay for measuring FXN...
  18. doi request reprint Homogentisic acid interference in routine urine creatinine determination
    Perry R Loken
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mol Genet Metab 100:103-4. 2010
    ..The low creatinine values were due to interference by HGA in the enzymatic method. The enzymatic method is unsuitable for creatinine determination in urine of patients with alkaptonuria...
  19. ncbi request reprint Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry
    Jean M Lacey
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 50:621-5. 2004
    ....
  20. ncbi request reprint Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry
    Dietrich Matern
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Pediatrics 112:74-8. 2003
    ..A sibling of the first patient is asymptomatic after prenatal diagnosis and early treatment. Family investigations in the second family revealed that the patient's mother was also affected but asymptomatic...
  21. doi request reprint Newborn screening for lysosomal storage disorders
    Dietrich Matern
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, MN Electronic address
    Semin Perinatol 39:206-16. 2015
    ..Here, we review the current state of newborn screening for these lysosomal storage disorders. ..
  22. doi request reprint Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease
    Coleman T Turgeon
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN, 55905, USA
    J Inherit Metab Dis 38:923-9. 2015
    ..Psychosine (PSY) is a putative marker of KD progression and can be measured in dried blood spots (DBS). We sought to determine the role that PSY levels play in NBS for KD, follow up, and treatment monitoring...
  23. doi request reprint Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome
    Patricia Hall
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA
    Mol Genet Metab 110:176-8. 2013
    ..The medication history of these individuals revealed aripiprazole and trazodone as common medications to all the false positive results. ..
  24. doi request reprint Newborn screening of metabolic disorders: recent progress and future developments
    Piero Rinaldo
    Biochemical Genetics Laboratory, Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA
    Nestle Nutr Workshop Ser Pediatr Program 62:81-93; discussion 93-6. 2008
    ..If approved, these conditions could be added to the uniform panel and consequently pave the way to large scale implementation...
  25. pmc A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening
    Regina Ensenauer
    Department of Laboratory Medicine and Pathology, Division of Clinical Epidemiology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Am J Hum Genet 75:1136-42. 2004
    ..Our findings indicate the frequent occurrence of a novel mild and potentially asymptomatic phenotype of IVA. This has significant consequences for patient management and counseling...
  26. ncbi request reprint Rapid, large-scale formation of porcine hepatocyte spheroids in a novel spheroid reservoir bioartificial liver
    Scott L Nyberg
    Department of Surgery, Mayo Clinic, Rochester, MN 55905, USA
    Liver Transpl 11:901-10. 2005
    ....
  27. ncbi request reprint Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry
    P C Kao
    Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
    Ann Clin Lab Sci 31:199-204. 2001
    ..The authors envision that LC-MS/MS may soon become an ideal analytical technique for the diagnosis of such endocrine diseases...
  28. ncbi request reprint Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
    D Matern
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, Minnesota 55905, USA
    Mol Genet Metab 72:265-8. 2001
    ..We speculate that the child's autosomal recessive fatty acid beta-oxidation disorder and the pregnancy complication are causally related...
  29. ncbi request reprint Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007)
    D Matern
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    J Inherit Metab Dis 30:585-92. 2007
    ..09%, a positive predictive value of 41%, and a positive detection rate of 1 affected case in 1672 babies screened...
  30. doi request reprint Acylcarnitine profile analysis
    Piero Rinaldo
    Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Genet Med 10:151-6. 2008
    ..They also are advised to take notice of the date any particular standard or guidelines was adopted, and to consider other relevant medical and scientific information that becomes available after that date...
  31. doi request reprint Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
    David M S McHugh
    Mayo Clinic College of Medicine, Rochester, Minnesota, USA
    Genet Med 13:230-54. 2011
    ..To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort...
  32. pmc Postanalytical tools improve performance of newborn screening by tandem mass spectrometry
    Patricia L Hall
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
    Genet Med 16:889-95. 2014
    ....
  33. ncbi request reprint Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease
    Charles A Kroll
    Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA
    Mol Genet Metab 89:134-8. 2006
    ..These findings support that presymptomatic screening for Wilson disease using dried blood spots could be possible, even in the newborn period...
  34. ncbi request reprint Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts
    Karen A Kramer
    Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Clin Chem 51:2110-6. 2005
    ..Current assay methods are time-consuming and labor-intensive and thus constitute a major impediment to clinical practice. A method with a faster turnaround time would therefore be beneficial...
  35. ncbi request reprint The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots
    Narasimhan Nagan
    Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Mol Genet Metab 78:239-46. 2003
    ..0001). However, none of the observed genotypes was associated with a concentration of C(4)-acylcarnitine that would be consistent with a biochemical diagnosis of SCAD deficiency...
  36. doi request reprint Gene expression and functional analyses of primary rat hepatocytes on nanofiber matrices
    Colleen M Brophy
    Department of Biomedical Engineering, Physiology, Mayo Clinic, Rochester, MN 55905, USA
    Cells Tissues Organs 191:129-40. 2010
    ....
  37. ncbi request reprint Liquid chromatography-tandem mass spectrometry method for the determination of vanillylmandelic acid in urine
    Mark J Magera
    Department of Laboratory Medicine and Pathology, Mayo Clinic and Foundation, Rochester, MN 55905, USA
    Clin Chem 49:825-6. 2003
  38. pmc Rat hepatocyte spheroids formed by rocked technique maintain differentiated hepatocyte gene expression and function
    Colleen M Brophy
    Department of Surgery, Division of Transplant Surgery, Mayo Clinic, Rochester, MN, USA
    Hepatology 49:578-86. 2009
    ..Biochemical activity of rocked spheroid hepatocytes was superior to monolayer culture of hepatocytes on tissue culture plastic and collagen...
  39. ncbi request reprint Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders
    S A Lagerstedt
    Biochemical Genetics Laboratory, Mayo Clinic and Foundation, 200 First Street SW, Rochester, MN 55905, USA
    Mol Genet Metab 73:38-45. 2001
    ....
  40. ncbi request reprint Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport
    Chantal F Morel
    Department of Human Genetics, McGill University, Montreal, Que, Canada
    Mol Genet Metab 86:160-71. 2005
    ..Our experience suggests that prenatal diagnosis for these disorders should be done by application of two independent methods, and that CA studies appear more reliable than CCVC studies...
  41. pmc Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice
    Ravi J Tolwani
    Department of Genetics, University of Alabama, Birmingham, Alabama, USA
    PLoS Genet 1:e23. 2005
    ..The MCAD-deficient mouse reproduced important aspects of human MCAD deficiency and is a valuable model for further analysis of the roles of fatty acid oxidation and pathogenesis of human diseases involving fatty acid oxidation...
  42. pmc Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
    Melanie B Gillingham
    Departments of Pediatrics and Molecular and Medical Genetics, Oregon Health and Science University OHSU, Mail code CDRC F, P O Box 574, Portland, OR 97207 0574, USA
    Mol Genet Metab 79:114-23. 2003
    ..The diet should be supplemented with vegetable oils as part of the 10% total LCFA intake to provide essential fatty acids...
  43. ncbi request reprint Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation
    Vito Iacobazzi
    Dipartimento Farmaco Biologico, University of Bari, Italy
    Am J Med Genet A 126:150-5. 2004
    ..These results suggest that carnitine and MCT may be effective in treating this defect of long-chain fatty acid oxidation...
  44. ncbi request reprint Expanded newborn screening identifies maternal primary carnitine deficiency
    Lisa A Schimmenti
    University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA
    Mol Genet Metab 90:441-5. 2007
    ..Given the lifetime risk of morbidity or sudden death, identification of adult patients with primary carnitine deficiency is an added benefit of expanded newborn screening programs...
  45. ncbi request reprint Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi Group
    Neil R M Buist
    Department of Pediatrics, Oregon Health and Science University, Portland, OR 97225, USA
    J Child Neurol 17:3S98-102. 2002
    ..There must be a common ground that links clinicians and basic researchers in an evolving and collaborative manner...
  46. doi request reprint The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level
    Christina B Pedersen
    Research Unit for Molecular Medicine, Skejby and Faculty of Health Sciences, Aarhus University Hospital, Brendstrupgaardsvej 100, 8200, Aarhus, Denmark
    Hum Genet 124:43-56. 2008
    ..We propose that SCAD deficiency should be considered as a disorder of protein folding that can lead to clinical disease in combination with other genetic and environmental factors...
  47. ncbi request reprint Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance
    Jamal A Ibdah
    Division of Gastroenterology, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Gastroenterology 128:1381-90. 2005
    ..In this study, we investigated effects of heterozygosity for the MTP defect on hepatic oxidative stress, insulin resistance, and development of NAFLD in mice...
  48. ncbi request reprint Committee Report: advancing the current recommended panel of conditions for newborn screening
    Nancy S Green
    Department of Pediatrics, Columbia University Medical Center, New York, New York, USA
    Genet Med 9:792-6. 2007
    ..Committee review will adhere to the fundamental principles of being transparent, broadly accessible, evidence-based and consistent across the process for all of the proposed conditions across the process...
  49. pmc Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein
    Valeria Tiranti
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy
    Am J Hum Genet 74:239-52. 2004
    ..However, given its role in EE, the name of the gene has been changed to "ETHE1." The severe consequences of its malfunctioning indicate an important role of the ETHE1 gene product in mitochondrial homeostasis and energy metabolism...
  50. ncbi request reprint Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidation
    A Michele Schuler
    Department of Genetics, 720 20th Street South, Kaul Human Genetics Building 620A, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    Mol Genet Metab 83:322-9. 2004
    ....
  51. ncbi request reprint Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation
    A Michele Schuler
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA
    Mol Genet Metab 85:7-11. 2005
    ..These results substantiate the concept of synergistic heterozygosity and illustrate the potential complexity involved in diagnosis and characterization of inborn errors of fatty acid metabolism in humans...
  52. ncbi request reprint Abnormal concentrations of esterified carnitine in bile: a feature of pediatric acute liver failure with poor prognosis
    Benjamin L Shneider
    Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Hepatology 41:717-21. 2005
    ..In conclusion, the findings raise the hypothesis that abnormalities in fatty acid oxidation may predispose to a worse outcome in acute liver failure...