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Manuel Schiff

Showing results (21-30 of 159) with videos related to

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Molecular Genetics and Metabolism|July 18, 2006
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiencyManuèle Miné, Michèle Brivet, Manuel Schiff, et al.
Molecular Genetics and Metabolism|December 6, 2005
A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentationManuel Schiff, Virginie Levrat, Cécile Acquaviva, et al.
Scientific Reports|October 3, 2019
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screeningAlexandra Bower, Apolline Imbard, Jean-François Benoist, et al.
Journal of Inherited Metabolic Disease|May 22, 2010
Isolated remethylation disorders: do our treatments benefit patients?Manuel Schiff, Jean-François Benoist, Bogdana Tilea, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|January 4, 2021
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year periodFlorence Rigaudière, Eliane Delouvrier, Jean-François Le Gargasson, et al.
European Journal of Medical Genetics|November 29, 2023
New description of an MRPS2 homozygous patient: Further features to help expend the phenotypeThalia Papadopoulos, Pauline Gaignard, Manuel Schiff, et al.
Journal of Inherited Metabolic Disease|November 12, 2024
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network surveyJulia Neugebauer, Karit Reinson, Marcello Bellusci, et al.
Annals of Neurology|March 28, 2006
Leigh's disease due to a new mutation in the PDHX geneManuel Schiff, Manuele Miné, Michèle Brivet, et al.
Clinical Science (London, England : 1979)|February 6, 2016
Mitochondrial cytochrome c oxidase deficiencyMalgorzata Rak, Paule Bénit, Dominique Chrétien, et al.
Molecular Genetics and Metabolism Reports|May 23, 2015
ANT2-defective fibroblasts exhibit normal mitochondrial bioenergeticsDolly Prabhu, Amy C Goldstein, Riyad El-Khoury, et al.
Pageof 16

Showing results (21-30 of 159) with videos related to

Sort By:
Pageof 16
Molecular Genetics and Metabolism|July 18, 2006
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiencyManuèle Miné, Michèle Brivet, Manuel Schiff, et al.
Molecular Genetics and Metabolism|December 6, 2005
A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentationManuel Schiff, Virginie Levrat, Cécile Acquaviva, et al.
Scientific Reports|October 3, 2019
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screeningAlexandra Bower, Apolline Imbard, Jean-François Benoist, et al.
Journal of Inherited Metabolic Disease|May 22, 2010
Isolated remethylation disorders: do our treatments benefit patients?Manuel Schiff, Jean-François Benoist, Bogdana Tilea, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|January 4, 2021
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and progressive retinopathy: one case report followed by ERGs, VEPs, EOG over a 17-year periodFlorence Rigaudière, Eliane Delouvrier, Jean-François Le Gargasson, et al.
European Journal of Medical Genetics|November 29, 2023
New description of an MRPS2 homozygous patient: Further features to help expend the phenotypeThalia Papadopoulos, Pauline Gaignard, Manuel Schiff, et al.
Journal of Inherited Metabolic Disease|November 12, 2024
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network surveyJulia Neugebauer, Karit Reinson, Marcello Bellusci, et al.
Annals of Neurology|March 28, 2006
Leigh's disease due to a new mutation in the PDHX geneManuel Schiff, Manuele Miné, Michèle Brivet, et al.
Clinical Science (London, England : 1979)|February 6, 2016
Mitochondrial cytochrome c oxidase deficiencyMalgorzata Rak, Paule Bénit, Dominique Chrétien, et al.
Molecular Genetics and Metabolism Reports|May 23, 2015
ANT2-defective fibroblasts exhibit normal mitochondrial bioenergeticsDolly Prabhu, Amy C Goldstein, Riyad El-Khoury, et al.
Pageof 16