A M Bosch

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. 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
  2. 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
  3. pmc Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
    Annet M Bosch
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 34:159-64. 2011
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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

Collaborators

  • Martha A Grootenhuis
  • F J van Spronsen
  • A B P van Kuilenburg
  • M Duran
  • A E ten Hoedt
  • M F Mulder
  • M de Vries
  • M Hoeksma
  • B Dorgelo
  • P H Verkerk
  • M van Rijn
  • J B C de Klerk
  • M Estela Rubio-Gozalbo
  • T de Koning
  • A E M Stroomer
  • A Boelen
  • E A Kemper-Proper
  • F A Wijburg
  • M J W Oey-Spauwen
  • A A van Kempen

Detail Information

Publications8

  1. 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...
  2. 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...
  3. pmc Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
    Annet M Bosch
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 34:159-64. 2011
    ....
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. 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...