A M Bosch

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. ncbi 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
  2. ncbi 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
  3. ncbi 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
  4. ncbi 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
  5. 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
  6. ncbi 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
  7. ncbi "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 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
  9. 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
  10. 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

Collaborators

  • 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
  • Serwet Demirdas
  • Carla Em Hollak
  • M Estela Rubio-Gozalbo
  • 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
  • Hanka Meutgeert
  • Marjolein J Korndewal
  • Anja Klaren
  • Margreet van Rijn
  • Imke N van Kessel
  • Mirian C H Janssen
  • Carla E M Hollak
  • N Ada P van der Herberg-van de Wetering
  • Carolien C A Boelen
  • Cora F Jonkers
  • Baudouin Francois
  • Carolien Ca Boelen
  • A E M Stroomer
  • A A van Kempen
  • Bernhard Lohkamp
  • A Boelen
  • M J W Oey Spauwen
  • Lida Zoetekouw
  • Frank J de Jong
  • Frank J Broekmans
  • Nico G G M Abeling
  • Bart C J M Fauser
  • Judith Meijer
  • Rutger Meinsma
  • Herman L G van Tinteren
  • Renate Richardus
  • Marinus J Eijkemans
  • Marinus Duran
  • E A Kemper Proper
  • E A Kemper-Proper
  • M J W Oey-Spauwen
  • Saskia N van der Crabben
  • Hans P Sauerwein

Detail Information

Publications18

  1. ncbi 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...
  2. ncbi 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...
  3. ncbi 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...
  4. ncbi 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...
  5. 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...
  6. ncbi 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...
  7. ncbi "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 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...
  9. 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...
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. ncbi 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
    ....
  15. ncbi 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
    ..Early and regular evaluation and support of possible cognitive problems should be a major part of the protocol for the follow-up of patients with classical galactosemia...
  16. ncbi 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...
  17. ncbi 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
    ..We conclude that the rate of appearance of galactose is not influenced by exogenous galactose, at least under short-term conditions, in patients with classical galactosemia and in control subjects...
  18. ncbi 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...