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Annet M Bosch

Showing results (91-100 of 103) with videos related to

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Molecular Genetics and Metabolism|December 27, 2014
Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?Geertje B Liemburg, Rianne Jahja, Francjan J van Spronsen, et al.
JIMD Reports|July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimizationKevin Stroek, Anita Boelen, Marelle J Bouva, et al.
Brain Communications|September 21, 2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markersMendy M Welsink-Karssies, Sacha Ferdinandusse, Gert J Geurtsen, et al.
Journal of Inherited Metabolic Disease|November 19, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-upLindsey Welling, Laurie E Bernstein, Gerard T Berry, et al.
JIMD Reports|March 17, 2021
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variationKarlien L M Coene, Corrie Timmer, Susan M I Goorden, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 19, 2020
Galactokinase deficiency: lessons from the GalNet registryM Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
The Journal of Clinical Endocrinology and Metabolism|June 25, 2021
Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot StudyKevin Stroek, An Ruiter, Annelieke van der Linde, et al.
Journal of Inherited Metabolic Disease|November 10, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic DiseasesEllen M Hulshof, Hugo P Lantinga, Gonnie Alkemade, et al.
Journal of Inherited Metabolic Disease|September 12, 2022
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALTQuinton S Katler, Karolina M Stepien, Nathan Paull, et al.
Journal of Inherited Metabolic Disease|February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomesJeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
Pageof 11

Showing results (91-100 of 103) with videos related to

Sort By:
Pageof 11
Molecular Genetics and Metabolism|December 27, 2014
Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?Geertje B Liemburg, Rianne Jahja, Francjan J van Spronsen, et al.
JIMD Reports|July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimizationKevin Stroek, Anita Boelen, Marelle J Bouva, et al.
Brain Communications|September 21, 2020
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markersMendy M Welsink-Karssies, Sacha Ferdinandusse, Gert J Geurtsen, et al.
Journal of Inherited Metabolic Disease|November 19, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-upLindsey Welling, Laurie E Bernstein, Gerard T Berry, et al.
JIMD Reports|March 17, 2021
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variationKarlien L M Coene, Corrie Timmer, Susan M I Goorden, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 19, 2020
Galactokinase deficiency: lessons from the GalNet registryM Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
The Journal of Clinical Endocrinology and Metabolism|June 25, 2021
Second-tier Testing for 21-Hydroxylase Deficiency in the Netherlands: A Newborn Screening Pilot StudyKevin Stroek, An Ruiter, Annelieke van der Linde, et al.
Journal of Inherited Metabolic Disease|November 10, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic DiseasesEllen M Hulshof, Hugo P Lantinga, Gonnie Alkemade, et al.
Journal of Inherited Metabolic Disease|September 12, 2022
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALTQuinton S Katler, Karolina M Stepien, Nathan Paull, et al.
Journal of Inherited Metabolic Disease|February 15, 2019
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomesJeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
Pageof 11