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Annet M Bosch

Showing results (71-80 of 103) with videos related to

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Molecular Genetics and Metabolism|January 20, 2020
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypesMendy M Welsink-Karssies, Michel van Weeghel, Carla E M Hollak, et al.
European Thyroid Journal|October 19, 2023
Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based modelHeleen I Jansen, Marije van Haeringen, Marelle J Bouva, et al.
Journal of Inherited Metabolic Disease|December 18, 2019
The 1-<sup>13</sup> C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypesMendy M Welsink-Karssies, Dewi van Harskamp, Sacha Ferdinandusse, et al.
Orphanet Journal of Rare Diseases|July 12, 2013
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotypeKaren Anjema, Margreet van Rijn, Floris C Hofstede, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiencyJeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
Journal of Inherited Metabolic Disease|September 2, 2022
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathwaysMerel E Hermans, Michel van Weeghel, Frédéric M Vaz, et al.
Molecular Genetics and Metabolism|June 5, 2012
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screeningGeorgianne L Arnold, Denise Salazar, Julie A Neidich, et al.
The Lancet. Diabetes & Endocrinology|August 27, 2017
Issues with European guidelines for phenylketonuria - Authors' replyFrancjan J van Spronsen, Annemiek M J van Wegberg, Kirsten Ahring, et al.
International Journal of Neonatal Screening|January 21, 2026
Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely ReferralNils W F Meijer, Hidde H Huidekoper, Klaas Koop, et al.
Journal of Inherited Metabolic Disease|March 1, 2019
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemiaAnouk Kuiper, Stephanie Grünewald, Elaine Murphy, et al.
Pageof 11

Showing results (71-80 of 103) with videos related to

Sort By:
Pageof 11
Molecular Genetics and Metabolism|January 20, 2020
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypesMendy M Welsink-Karssies, Michel van Weeghel, Carla E M Hollak, et al.
European Thyroid Journal|October 19, 2023
Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based modelHeleen I Jansen, Marije van Haeringen, Marelle J Bouva, et al.
Journal of Inherited Metabolic Disease|December 18, 2019
The 1-<sup>13</sup> C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypesMendy M Welsink-Karssies, Dewi van Harskamp, Sacha Ferdinandusse, et al.
Orphanet Journal of Rare Diseases|July 12, 2013
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotypeKaren Anjema, Margreet van Rijn, Floris C Hofstede, et al.
Journal of Inherited Metabolic Disease|February 12, 2019
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiencyJeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, et al.
Journal of Inherited Metabolic Disease|September 2, 2022
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathwaysMerel E Hermans, Michel van Weeghel, Frédéric M Vaz, et al.
Molecular Genetics and Metabolism|June 5, 2012
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screeningGeorgianne L Arnold, Denise Salazar, Julie A Neidich, et al.
The Lancet. Diabetes & Endocrinology|August 27, 2017
Issues with European guidelines for phenylketonuria - Authors' replyFrancjan J van Spronsen, Annemiek M J van Wegberg, Kirsten Ahring, et al.
International Journal of Neonatal Screening|January 21, 2026
Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely ReferralNils W F Meijer, Hidde H Huidekoper, Klaas Koop, et al.
Journal of Inherited Metabolic Disease|March 1, 2019
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemiaAnouk Kuiper, Stephanie Grünewald, Elaine Murphy, et al.
Pageof 11