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J Derks

Showing results (81-90 of 167) with videos related to

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International Journal of Neonatal Screening|November 5, 2020
Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of MetabolismWillemijn J van Rijt, Peter C J I Schielen, Yasemin Özer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 25, 2017
Molybdenum cofactor deficiency type A: Prenatal monitoring using MRICharlotte M A Lubout, Terry G J Derks, Linda Meiners, et al.
The Journal of Pediatrics|June 2, 2006
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcomeTerry G J Derks, Dirk-Jan Reijngoud, Hans R Waterham, et al.
Molecular Genetics and Metabolism|October 16, 2025
Urinary tetraglucoside excretion as a biomarker in liver glycogen storage diseasesRuben J Overduin, Candelas Gross-Valle, Joost Groen, et al.
Journal of Lipid Research|September 21, 2024
A specific serum lipid signature characterizes patients with glycogen storage disease type IaAlessandro Rossi, Margherita Ruoppolo, Roberta Fedele, et al.
Human Molecular Genetics|December 10, 2019
Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levelsAli Saeed, Joanne A Hoogerland, Hanna Wessel, et al.
Italian Journal of Pediatrics|July 3, 2021
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case reportAlessandro Rossi, Erasmo Miele, Simona Fecarotta, et al.
JIMD Reports|January 26, 2017
What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?Esther van Dam, Anne Daly, Gineke Venema-Liefaard, et al.
Pediatrics|September 24, 2014
Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADDWillemijn J Van Rijt, M Rebecca Heiner-Fokkema, Gideon J du Marchie Sarvaas, et al.
Journal of Inherited Metabolic Disease|May 27, 2024
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozinRuben J Overduin, Sarah C Grünert, Martine T P Besouw, et al.
Pageof 17

Showing results (81-90 of 167) with videos related to

Sort By:
Pageof 17
International Journal of Neonatal Screening|November 5, 2020
Instability of Acylcarnitines in Stored Dried Blood Spots: The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of MetabolismWillemijn J van Rijt, Peter C J I Schielen, Yasemin Özer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 25, 2017
Molybdenum cofactor deficiency type A: Prenatal monitoring using MRICharlotte M A Lubout, Terry G J Derks, Linda Meiners, et al.
The Journal of Pediatrics|June 2, 2006
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcomeTerry G J Derks, Dirk-Jan Reijngoud, Hans R Waterham, et al.
Molecular Genetics and Metabolism|October 16, 2025
Urinary tetraglucoside excretion as a biomarker in liver glycogen storage diseasesRuben J Overduin, Candelas Gross-Valle, Joost Groen, et al.
Journal of Lipid Research|September 21, 2024
A specific serum lipid signature characterizes patients with glycogen storage disease type IaAlessandro Rossi, Margherita Ruoppolo, Roberta Fedele, et al.
Human Molecular Genetics|December 10, 2019
Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levelsAli Saeed, Joanne A Hoogerland, Hanna Wessel, et al.
Italian Journal of Pediatrics|July 3, 2021
Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case reportAlessandro Rossi, Erasmo Miele, Simona Fecarotta, et al.
JIMD Reports|January 26, 2017
What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?Esther van Dam, Anne Daly, Gineke Venema-Liefaard, et al.
Pediatrics|September 24, 2014
Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADDWillemijn J Van Rijt, M Rebecca Heiner-Fokkema, Gideon J du Marchie Sarvaas, et al.
Journal of Inherited Metabolic Disease|May 27, 2024
Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozinRuben J Overduin, Sarah C Grünert, Martine T P Besouw, et al.
Pageof 17