A M Bosch

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. ncbi 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. ncbi 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. ncbi 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. ncbi 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. ncbi 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 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. ncbi 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 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
  • T de Koning
  • M F Mulder
  • M Estela Rubio-Gozalbo
  • M van Rijn
  • J B C de Klerk
  • M de Vries
  • P H Verkerk
  • M Hoeksma
  • B Dorgelo
  • A E M Stroomer
  • A A van Kempen
  • A Boelen
  • M J W Oey Spauwen
  • F A Wijburg
  • E A Kemper Proper
  • E A Kemper-Proper
  • M J W Oey-Spauwen

Detail Information

Publications8

  1. ncbi 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. ncbi 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. ncbi 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. ncbi 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
    ..CONCLUSIONS: These findings provide further evidence that attempts to exclude trace amounts of galactose from the diet are not justified. Once the diet is made more liberal, a long term follow up study will be necessary...
  5. ncbi 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 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. ncbi 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 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...