A M Bosch

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. pmc Fertility preservation in female classic galactosemia patients
    Britt van Erven
    Department of Pediatrics and Department of Genetic Metabolic Diseases Laboratory, Maastricht University Medical Center, Maastricht, The Netherlands
    Orphanet J Rare Dis 8:107. 2013
  2. 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
  3. pmc Clinical pathways for inborn errors of metabolism: warranted and feasible
    Serwet Demirdas
    Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 8:37. 2013
  4. 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
  5. pmc High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial
    Amber E Ten Hoedt
    Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 34:165-71. 2011
  6. pmc Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life
    Amber E Ten Hoedt
    Department of Pediatrics H7 270, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 34:391-8. 2011
  7. pmc "MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial
    Amber E Ten Hoedt
    Department of Pediatrics, Academic Medical Center AMC, University of Amsterdam, AZ Amsterdam, The Netherlands
    Orphanet J Rare Dis 6:48. 2011
  8. ncbi request reprint The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria
    A M Bosch
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 30:29-34. 2007
  9. ncbi request reprint Classical galactosaemia revisited
    Annet M Bosch
    Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Centre G8 205, University Hospital of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    J Inherit Metab Dis 29:516-25. 2006
  10. doi request reprint Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU
    F J van Spronsen
    Department of Pediatrics, Beatrix Children s Hospital, and Center for Liver, Digestive and Metabolic Diseases, University Medical Center of Groningen, University of Groningen, Groningen, The Netherlands
    J Inherit Metab Dis 32:27-31. 2009

Collaborators

  • Margreet van Rijn
  • Ronald J A Wanders
  • Frits A Wijburg
  • Leo M J De Sonneville
  • Francjan J van Spronsen
  • Heleen Maurice-Stam
  • Martha A Grootenhuis
  • Hans R Waterham
  • Doreen Dobritzsch
  • Amber E Ten Hoedt
  • M Estela Rubio-Gozalbo
  • Serwet Demirdas
  • Britt van Erven
  • Catharina M L Touw
  • Carla Em Hollak
  • Nienke M Ter Horst
  • A B P van Kuilenburg
  • M Duran
  • A E ten Hoedt
  • Erik A H Knauff
  • Andre B P van Kuilenburg
  • Hidde H Huidekoper
  • Cynthia S Gubbels
  • Marjolein J Korndewal
  • Gerard T Berry
  • Joep P Geraedts
  • Gerard A Dunselman
  • Eileen P Treacy
  • Ron J van Golde
  • Anja Klaren
  • Corrine K Welt
  • Hanka Meutgeert
  • Imke N van Kessel
  • Josien G Derhaag
  • Guido de Wert
  • Bert Elvers
  • Gepke Visser
  • Margot F Mulder
  • Johannis B C De Klerk
  • Dirk Jan Reijngoud
  • Maaike De Vries
  • Klary E Niezen-Koning
  • Terry G J Derks
  • G Peter A Smit
  • Carla E M Hollak
  • Carolien C A Boelen
  • Mirian C H Janssen
  • Cora F Jonkers
  • Baudouin Francois
  • N Ada P van der Herberg-van de Wetering
  • Carolien Ca Boelen
  • A E M Stroomer
  • Bernhard Lohkamp
  • A Boelen
  • Marinus J Eijkemans
  • Bart C J M Fauser
  • Judith Meijer
  • Rutger Meinsma
  • M J W Oey-Spauwen
  • Lida Zoetekouw
  • Frank J de Jong
  • E A Kemper-Proper
  • Nico G G M Abeling
  • Renate Richardus
  • Marinus Duran
  • Frank J Broekmans
  • Herman L G van Tinteren
  • A A van Kempen
  • Hans P Sauerwein
  • Saskia N van der Crabben
  • Mariette T Ackermans

Detail Information

Publications20

  1. pmc Fertility preservation in female classic galactosemia patients
    Britt van Erven
    Department of Pediatrics and Department of Genetic Metabolic Diseases Laboratory, Maastricht University Medical Center, Maastricht, The Netherlands
    Orphanet J Rare Dis 8:107. 2013
    ..We propose that fertility preservation should only be offered with appropriate institutional research ethics approval to classic galactosemia girls at a young prepubertal age. ..
  2. 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...
  3. pmc Clinical pathways for inborn errors of metabolism: warranted and feasible
    Serwet Demirdas
    Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 8:37. 2013
    ..In this letter to the editor we describe why it is warranted to develop clinical pathways for IEMs and shortly discuss the process of development for these pathways in the Netherlands...
  4. 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...
  5. pmc High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial
    Amber E Ten Hoedt
    Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 34:165-71. 2011
    ..017 and p = 0.040, respectively). High plasma Phe levels have a direct negative effect on both sustained attention and on mood in adult patients with PKU. A Phe-restricted "diet for life" might be an advisable option for many...
  6. pmc Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life
    Amber E Ten Hoedt
    Department of Pediatrics H7 270, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 34:391-8. 2011
    ..The insight that emotional support and loss of friendship influence the HRQoL of the parents enables treating physicians to provide better support for these parents...
  7. pmc "MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial
    Amber E Ten Hoedt
    Department of Pediatrics, Academic Medical Center AMC, University of Amsterdam, AZ Amsterdam, The Netherlands
    Orphanet J Rare Dis 6:48. 2011
    ..We aimed to assess whether increased self-management of PKU patients and/or their parents is feasible and safe, by providing direct online access to blood Phe values without immediate professional guidance...
  8. ncbi request reprint The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria
    A M Bosch
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 30:29-34. 2007
    ..The results of this study demonstrate that although PKU is a chronic disease with the burden of strict dietary control, early and continuously treated patients with PKU can have a normal health-related quality of life and course of life...
  9. ncbi request reprint Classical galactosaemia revisited
    Annet M Bosch
    Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Centre G8 205, University Hospital of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    J Inherit Metab Dis 29:516-25. 2006
    ..In the meantime, the follow-up protocol for patients with GALT deficiency should focus on early detection, evaluation and, if possible, early intervention in problems of motor, speech and cognitive development...
  10. doi request reprint Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU
    F J van Spronsen
    Department of Pediatrics, Beatrix Children s Hospital, and Center for Liver, Digestive and Metabolic Diseases, University Medical Center of Groningen, University of Groningen, Groningen, The Netherlands
    J Inherit Metab Dis 32:27-31. 2009
    ..So far, little is known about the course of Phe tolerance or the ability of both pre-treatment Phe and Phe tolerance at early age to predict Phe tolerance at later age...
  11. pmc High tolerance for oral galactose in classical galactosaemia: dietary implications
    A M Bosch
    Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands
    Arch Dis Child 89:1034-6. 2004
    ..To study the relevance of restricting the exogenous intake of small amounts of galactose, such as from fruit and vegetables, in patients with classical galactosaemia...
  12. doi request reprint Remarkable differences: the course of life of young adults with galactosaemia and PKU
    A M Bosch
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, G8205, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    J Inherit Metab Dis 32:706-12. 2009
    ..We conclude that it is essential that parents and clinicians encourage children with galactosaemia to participate in peer-related activities in order to stimulate social performance, which may result in a more normal CoL...
  13. ncbi request reprint High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme
    A E ten Hoedt
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    J Inherit Metab Dis 30:978. 2007
    ..To prevent hypermethioninaemia, the use of high-methionine containing solutions for TPN should be reconsidered...
  14. ncbi request reprint Clinical features of galactokinase deficiency: a review of the literature
    A M Bosch
    Emma Children s Hospital, Amsterdam, The Netherlands
    J Inherit Metab Dis 25:629-34. 2002
    ..Although damage may well occur in utero, available evidence suggests that damage will continue after birth. Inhibition of galactokinase may then be a promising approach for controlling damage in GALT-deficient patients...
  15. doi request reprint Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency
    A B P van Kuilenburg
    Academic Medical Center, Department of Clinical Chemistry, University of Amsterdam, Amsterdam, The Netherlands
    Nucleosides Nucleotides Nucleic Acids 27:825-9. 2008
    ..Thus, the relevance of the shortage of beta-aminoisobutyric acid for the onset of a clinical phenotype in patients with DHP deficiency remains to be established...
  16. ncbi request reprint Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Mol Genet Metab 91:157-64. 2007
    ....
  17. ncbi request reprint Living with classical galactosemia: health-related quality of life consequences
    Annet M Bosch
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Pediatrics 113:e423-8. 2004
    ..The aim of this study was to study the influence of galactosemia on the patients' health-related quality of life (HRQoL), on educational levels, and on the specific galactosemia-related concerns of these families...
  18. ncbi request reprint Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age
    Erik A H Knauff
    Department of Reproduction and Gynecology, University Medical Center, Utrecht, The Netherlands
    Reprod Sci 14:780-5. 2007
    ..The authors conclude that there is no evidence that GALT mutation carriership affects ovarian reserve or menopausal age...
  19. ncbi request reprint Identification of novel mutations in classical galactosemia
    Annet M Bosch
    Academic Medical Centre, University of Amsterdam, Emma s Children s Hospital, Amsterdam, The Netherlands
    Hum Mutat 25:502. 2005
    ..508-29delT), and a large deletion encompassing at least exons 1-11. Six of these novel mutations were found in patients of Dutch descent: p.R51Q, p.S135W, p.K229N, p.Q252H, p.X380C, and c.410dupT...
  20. ncbi request reprint Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia
    Hidde H Huidekoper
    Department of Paediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Mol Genet Metab 84:265-72. 2005
    ..Alternatively, suppression of endogenous galactose production by exogenous galactose might be implicated. The aim of this study was to determine if the rate of appearance of galactose is suppressed by exogenous galactose...