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Annet M Bosch

Showing results (61-70 of 103) with videos related to

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Orphanet Journal of Rare Diseases|September 7, 2020
Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilitiesMendy M Welsink-Karssies, Kim J Oostrom, Merel E Hermans, et al.
Orphanet Journal of Rare Diseases|February 9, 2020
Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilitiesMendy M Welsink-Karssies, Kim J Oostrom, Merel E Hermans, et al.
International Journal of Neonatal Screening|October 25, 2024
The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The NetherlandsRosalie C Martens, Anita Boelen, Michèle H van der Kemp, et al.
Journal of Inherited Metabolic Disease|July 4, 2019
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort studyWillemijn J van Rijt, Sacha Ferdinandusse, Panagiotis Giannopoulos, et al.
Orphanet Journal of Rare Diseases|July 23, 2013
Fertility preservation in female classic galactosemia patientsBritt van Erven, Cynthia S Gubbels, Ron J van Golde, et al.
Journal of Inherited Metabolic Disease|February 17, 2026
Medicine Development and Access for Rare Diseases: Can We Do Better?Carla E M Hollak, Noa Rosenberg, Colinda Post, et al.
Journal of Inherited Metabolic Disease|April 24, 2019
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the NetherlandsEmmalie A Jager, Myrthe M Kuijpers, Annet M Bosch, et al.
European Journal of Endocrinology|June 25, 2020
Critical evaluation of the newborn screening for congenital hypothyroidism in the NetherlandsKevin Stroek, Annemieke C Heijboer, Marelle J Bouva, et al.
Molecular Genetics and Metabolism|October 9, 2013
Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort studySerwet Demirdas, Heleen Maurice-Stam, Carolien C A Boelen, et al.
Journal of Inherited Metabolic Disease|October 7, 2019
Bone mineral density is within normal range in most adult phenylketonuria patientsCharlotte M A Lubout, Francisco Arrieta Blanco, Katarzyna Bartosiewicz, et al.
Pageof 11

Showing results (61-70 of 103) with videos related to

Sort By:
Pageof 11
Orphanet Journal of Rare Diseases|September 7, 2020
Correction to: Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilitiesMendy M Welsink-Karssies, Kim J Oostrom, Merel E Hermans, et al.
Orphanet Journal of Rare Diseases|February 9, 2020
Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilitiesMendy M Welsink-Karssies, Kim J Oostrom, Merel E Hermans, et al.
International Journal of Neonatal Screening|October 25, 2024
The Value of Reducing Inconclusive and False-Positive Newborn Screening Results for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia and Maple Syrup Urine Disease in The NetherlandsRosalie C Martens, Anita Boelen, Michèle H van der Kemp, et al.
Journal of Inherited Metabolic Disease|July 4, 2019
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort studyWillemijn J van Rijt, Sacha Ferdinandusse, Panagiotis Giannopoulos, et al.
Orphanet Journal of Rare Diseases|July 23, 2013
Fertility preservation in female classic galactosemia patientsBritt van Erven, Cynthia S Gubbels, Ron J van Golde, et al.
Journal of Inherited Metabolic Disease|February 17, 2026
Medicine Development and Access for Rare Diseases: Can We Do Better?Carla E M Hollak, Noa Rosenberg, Colinda Post, et al.
Journal of Inherited Metabolic Disease|April 24, 2019
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the NetherlandsEmmalie A Jager, Myrthe M Kuijpers, Annet M Bosch, et al.
European Journal of Endocrinology|June 25, 2020
Critical evaluation of the newborn screening for congenital hypothyroidism in the NetherlandsKevin Stroek, Annemieke C Heijboer, Marelle J Bouva, et al.
Molecular Genetics and Metabolism|October 9, 2013
Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort studySerwet Demirdas, Heleen Maurice-Stam, Carolien C A Boelen, et al.
Journal of Inherited Metabolic Disease|October 7, 2019
Bone mineral density is within normal range in most adult phenylketonuria patientsCharlotte M A Lubout, Francisco Arrieta Blanco, Katarzyna Bartosiewicz, et al.
Pageof 11