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Manuel Schiff

Showing results (71-80 of 159) with videos related to

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JIMD Reports|May 12, 2021
Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational studyPascale de Lonlay, Roland Posset, Ulrike Mütze, et al.
Molecular Genetics and Metabolism|February 28, 2022
What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 childrenViolette Goetz, David Dawei Yang, Florence Lacaille, et al.
Molecular Genetics and Metabolism Reports|November 17, 2022
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screeningHela Hajji, Apolline Imbard, Anne Spraul, et al.
Orphanet Journal of Rare Diseases|November 15, 2022
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trialApolline Imbard, Artemis Toumazi, Sophie Magréault, et al.
Frontiers in Pediatrics|March 22, 2021
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the LiteratureMarc Gibaud, Magalie Barth, Jérémie Lefranc, et al.
Nature Medicine|May 29, 2023
Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutationBirgit Geoerger, Manuel Schiff, Virginie Penard-Lacronique, et al.
European Journal of Medical Genetics|July 6, 2010
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patientsManuel Schiff, Andrée Delahaye, Joris Andrieux, et al.
Journal of Inherited Metabolic Disease|March 7, 2023
Successful treatment of severe MSUD in Bckdhb<sup>-/-</sup> mice with neonatal AAV gene therapyClément Pontoizeau, Clovis Gaborit, Nolan Tual, et al.
Molecular Genetics and Metabolism|February 14, 2018
Long-term liver disease in methylmalonic and propionic acidemiasApolline Imbard, Nuria Garcia Segarra, Marine Tardieu, et al.
Molecular Genetics and Metabolism|July 16, 2023
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findingsAnaïs Brassier, Samia Pichard, Manuel Schiff, et al.
Pageof 16

Showing results (71-80 of 159) with videos related to

Sort By:
Pageof 16
JIMD Reports|May 12, 2021
Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational studyPascale de Lonlay, Roland Posset, Ulrike Mütze, et al.
Molecular Genetics and Metabolism|February 28, 2022
What are the clues for an inherited metabolic disorder in Reye syndrome? A single Centre study of 58 childrenViolette Goetz, David Dawei Yang, Florence Lacaille, et al.
Molecular Genetics and Metabolism Reports|November 17, 2022
Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screeningHela Hajji, Apolline Imbard, Anne Spraul, et al.
Orphanet Journal of Rare Diseases|November 15, 2022
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trialApolline Imbard, Artemis Toumazi, Sophie Magréault, et al.
Frontiers in Pediatrics|March 22, 2021
West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the LiteratureMarc Gibaud, Magalie Barth, Jérémie Lefranc, et al.
Nature Medicine|May 29, 2023
Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutationBirgit Geoerger, Manuel Schiff, Virginie Penard-Lacronique, et al.
European Journal of Medical Genetics|July 6, 2010
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patientsManuel Schiff, Andrée Delahaye, Joris Andrieux, et al.
Journal of Inherited Metabolic Disease|March 7, 2023
Successful treatment of severe MSUD in Bckdhb<sup>-/-</sup> mice with neonatal AAV gene therapyClément Pontoizeau, Clovis Gaborit, Nolan Tual, et al.
Molecular Genetics and Metabolism|February 14, 2018
Long-term liver disease in methylmalonic and propionic acidemiasApolline Imbard, Nuria Garcia Segarra, Marine Tardieu, et al.
Molecular Genetics and Metabolism|July 16, 2023
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findingsAnaïs Brassier, Samia Pichard, Manuel Schiff, et al.
Pageof 16