Annet M Bosch

Annet M Bosch

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Annet M Bosch

Annet M Bosch

Publications by authors named "Annet M Bosch"

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The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.

Mol Genet Metab 2020 Mar 9;129(3):171-176. Epub 2020 Jan 9.

Department of Pediatrics, Division of Metabolic Disorders, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.01.002DOI Listing
March 2020

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Orphanet J Rare Dis 2020 Feb 7;15(1):42. Epub 2020 Feb 7.

Department of Pediatrics, room H7-270, Amsterdam University Medical Centre, MC, PO BOX 22660, 1100 DD, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-019-1277-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007688PMC
February 2020

The need for additional care in patients with classical galactosaemia.

Disabil Rehabil 2019 Nov 31;41(22):2663-2668. Epub 2018 May 31.

Department of Pediatrics, Academic Medical Center , Amsterdam , The Netherlands.

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http://dx.doi.org/10.1080/09638288.2018.1475514DOI Listing
November 2019

Cognitive functioning in patients with classical galactosemia: a systematic review.

Orphanet J Rare Dis 2019 10 18;14(1):226. Epub 2019 Oct 18.

Department of Medical Psychology, Amsterdam UMC - location AMC, P.O. Box 22660, 1100 DD, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-019-1215-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798502PMC
October 2019

Galactosaemia - should it be screened in newborns?

Authors:
Annet M Bosch

Dev Period Med 2018;22(3):221-224

Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Department of Pediatric Metabolic Disorders, Amsterdam, the Netherlands.

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September 2019

A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.

J Inherit Metab Dis 2019 Sep 16;42(5):890-897. Epub 2019 May 16.

Section of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12102
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http://dx.doi.org/10.1002/jimd.12102DOI Listing
September 2019

Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I.

J Inherit Metab Dis 2019 Sep 16;42(5):762-775. Epub 2019 May 16.

Amsterdam UMC, University of Amsterdam, Pediatric Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam, Netherlands.

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http://dx.doi.org/10.1002/jimd.12103DOI Listing
September 2019

Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.

J Inherit Metab Dis 2019 Sep 17;42(5):878-889. Epub 2019 Jul 17.

Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

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http://dx.doi.org/10.1002/jimd.12147DOI Listing
September 2019

Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria".

Ann Nutr Metab 2018 16;72(1):80-81. Epub 2018 Jan 16.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1159/000486185DOI Listing
August 2019

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.

J Inherit Metab Dis 2019 Jul 21;42(4):598-607. Epub 2019 Feb 21.

MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1002/jimd.12053DOI Listing
July 2019

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

J Inherit Metab Dis 2019 01;42(1):159-168

Department of Metabolic Diseases, Dutch Fatty Acid Oxidation Expertise Center, Wilhelmina Children's Hospital (UMCU), University Medical Center Utrecht, Internal Mail KE 04.306.0, PO Box 85090 3508 AB, Utrecht, Netherlands.

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http://dx.doi.org/10.1002/jimd.12037DOI Listing
January 2019

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.

Mol Genet Metab Rep 2018 Dec 13;17:19-21. Epub 2018 Sep 13.

Department of Pediatrics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.ymgmr.2018.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138878PMC
December 2018

Screening for lysosomal acid lipase deficiency: A retrospective data mining study and evaluation of screening criteria.

Atherosclerosis 2018 11 19;278:174-179. Epub 2018 Sep 19.

Department of Pediatric Gastroenterology and Nutrition, Amsterdam University Medical Centers, Location Academic Medical Center/Emma Children's Hospital, the Netherlands.

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http://dx.doi.org/10.1016/j.atherosclerosis.2018.09.023DOI Listing
November 2018

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research.

Orphanet J Rare Dis 2018 08 24;13(1):146. Epub 2018 Aug 24.

Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/s13023-018-0888-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109347PMC
August 2018

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

Mol Genet Metab 2018 05 21;124(1):50-56. Epub 2018 Mar 21.

Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.03.008DOI Listing
May 2018

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

Ann Nutr Metab 2017 24;70(2):111-121. Epub 2017 Mar 24.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1159/000465529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516403PMC
March 2018

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.

JIMD Rep 2017 9;37:115-123. Epub 2017 Apr 9.

Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2017_22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740047PMC
April 2017

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical Mutation.

Front Pediatr 2017 27;5:37. Epub 2017 Feb 27.

Department of Pediatric Hematology, Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, Netherlands; Department of Clinical Genetics, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.3389/fped.2017.00037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5326763PMC
February 2017

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.

JIMD Rep 2017 20;35:87-96. Epub 2016 Dec 20.

Department of Pediatrics, Academic Medical Center, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585100PMC
December 2016

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.

J Inherit Metab Dis 2016 07 14;39(4):559-64. Epub 2016 Mar 14.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-016-9924-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920840PMC
July 2016

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

Eur J Pediatr 2016 Jan 10;175(1):143-6. Epub 2015 Jul 10.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://link.springer.com/10.1007/s00431-015-2584-7
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http://dx.doi.org/10.1007/s00431-015-2584-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4709371PMC
January 2016

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

Orphanet J Rare Dis 2016 Jan 29;11:10. Epub 2016 Jan 29.

University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, PO box 30.001, CA33, 9700 RB, Groningen, The Netherlands.

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http://dx.doi.org/10.1186/s13023-016-0394-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731980PMC
January 2016

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Mol Genet Metab 2015 Mar 12;114(3):425-30. Epub 2014 Dec 12.

Department of Clinical Child and Adolescents Studies, Leiden Institute for Brain and Cognition, Leiden University, Leiden, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.12.302DOI Listing
March 2015

Bone health in phenylketonuria: a systematic review and meta-analysis.

Orphanet J Rare Dis 2015 Feb 15;10:17. Epub 2015 Feb 15.

Metabolic Nutrition and Genetics Program Department of Human Genetics, Emory University Atlanta GA United States, Atlanta, GA, USA.

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http://dx.doi.org/10.1186/s13023-015-0232-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4340652PMC
February 2015

Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.

Mol Genet Metab 2013 22;110 Suppl:S57-61. Epub 2013 Oct 22.

Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.10.011DOI Listing
July 2014

Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

Mol Genet Metab 2014 Mar 26;111(3):404-407. Epub 2013 Sep 26.

Department of Pediatric Neurology, Clinical Genetics, Metabolic Disorders, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.09.014DOI Listing
March 2014

Fertility preservation in female classic galactosemia patients.

Orphanet J Rare Dis 2013 Jul 16;8:107. Epub 2013 Jul 16.

Department of Pediatrics and Department of Genetic Metabolic Diseases Laboratory, Maastricht University Medical Center, Maastricht, the Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3718676PMC
July 2013

The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.

JIMD Rep 2012 25;5:127-30. Epub 2011 Dec 25.

Department of Pediatrics, Academic Medical Center (H7-270), University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2011_115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509918PMC
February 2013

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial.

Orphanet J Rare Dis 2011 Jun 27;6:48. Epub 2011 Jun 27.

Department of Pediatrics, Academic Medical Center (AMC), University of Amsterdam, AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-6-48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3133536PMC
June 2011

Classic galactosemia: dietary dilemmas.

Authors:
Annet M Bosch

J Inherit Metab Dis 2011 Apr 13;34(2):257-60. Epub 2010 Jul 13.

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http://dx.doi.org/10.1007/s10545-010-9157-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063550PMC
April 2011

Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life.

J Inherit Metab Dis 2011 Apr 3;34(2):391-8. Epub 2011 Feb 3.

Department of Pediatrics (H7-270), Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-010-9267-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063540PMC
April 2011

Predicting health-related quality of life of parents of children with inherited metabolic diseases.

Acta Paediatr 2009 Jul 21;98(7):1205-10. Epub 2009 Apr 21.

Psycho Social Department, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://doi.wiley.com/10.1111/j.1651-2227.2009.01269.x
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http://dx.doi.org/10.1111/j.1651-2227.2009.01269.xDOI Listing
July 2009

Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature.

Eur J Pediatr 2009 Jun 24;168(6):721-9. Epub 2008 Sep 24.

German Diabetic Centre, Department of Clinical Biochemistry and Pathobiochemistry, UKD, University of Düsseldorf, Düsseldorf, Germany.

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http://dx.doi.org/10.1007/s00431-008-0832-9DOI Listing
June 2009

Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency.

Mol Genet Metab 2007 Jun 26;91(2):157-64. Epub 2007 Mar 26.

Academic Medical Center, University of Amsterdam, Emma Children's Hospital, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2007.02.008DOI Listing
June 2007

Classical galactosaemia revisited.

Authors:
Annet M Bosch

J Inherit Metab Dis 2006 Aug 11;29(4):516-25. Epub 2006 Jul 11.

Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Centre (G8 205), University Hospital of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10545-006-0382-0DOI Listing
August 2006

Identification of novel mutations in classical galactosemia.

Hum Mutat 2005 May;25(5):502

Academic Medical Centre, University of Amsterdam, Emma's Children's Hospital, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.9330DOI Listing
May 2005

Short-term exogenous galactose supplementation does not influence rate of appearance of galactose in patients with classical galactosemia.

Mol Genet Metab 2005 Mar 11;84(3):265-72. Epub 2004 Nov 11.

Department of Paediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2004.09.013DOI Listing
March 2005

Living with classical galactosemia: health-related quality of life consequences.

Pediatrics 2004 May;113(5):e423-8

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://pediatrics.aappublications.org/content/pediatrics/113
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http://dx.doi.org/10.1542/peds.113.5.e423DOI Listing
May 2004