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D Rabier

Showing results (131-140 of 157) with videos related to

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Neuromuscular Disorders : NMD|March 29, 2000
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patientL Thuillier, C Sevin, F Demaugre, et al.
American Journal of Medical Genetics|August 17, 1999
Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.
Molecular Genetics and Metabolism|October 6, 1998
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiencyB Z Yang, J H Ding, T Dewese, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Metabolic intermediates in lactic acidosis: compounds, samples and interpretationF Poggi-Travert, D Martin, T Billette de Villemeur, et al.
Prenatal Diagnosis|August 1, 1995
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemiaB Segues, J M Rozet, B Gilbert, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?D Rabier, C Diry, A Rotig, et al.
European Journal of Pediatrics|February 9, 1999
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemiaB Parfait, P de Lonlay, J C von Kleist-Retzow, et al.
Journal of Inherited Metabolic Disease|June 10, 2006
Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixtureG Touati, V Valayannopoulos, K Mention, et al.
Molecular Genetics and Metabolism|April 7, 2009
Secondary creatine deficiency in ornithine delta-aminotransferase deficiencyV Valayannopoulos, N Boddaert, K Mention, et al.
Pediatric Research|August 24, 2001
Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patientsP De Lonlay, C Benelli, F Fouque, et al.
Pageof 16

Showing results (131-140 of 157) with videos related to

Sort By:
Pageof 16
Neuromuscular Disorders : NMD|March 29, 2000
Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patientL Thuillier, C Sevin, F Demaugre, et al.
American Journal of Medical Genetics|August 17, 1999
Facial anomalies in D-2-hydroxyglutaric aciduriaJ Amiel, P de Lonlay, C Francannet, et al.
Molecular Genetics and Metabolism|October 6, 1998
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiencyB Z Yang, J H Ding, T Dewese, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Metabolic intermediates in lactic acidosis: compounds, samples and interpretationF Poggi-Travert, D Martin, T Billette de Villemeur, et al.
Prenatal Diagnosis|August 1, 1995
Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemiaB Segues, J M Rozet, B Gilbert, et al.
Journal of Inherited Metabolic Disease|August 1, 1998
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?D Rabier, C Diry, A Rotig, et al.
European Journal of Pediatrics|February 9, 1999
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemiaB Parfait, P de Lonlay, J C von Kleist-Retzow, et al.
Journal of Inherited Metabolic Disease|June 10, 2006
Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixtureG Touati, V Valayannopoulos, K Mention, et al.
Molecular Genetics and Metabolism|April 7, 2009
Secondary creatine deficiency in ornithine delta-aminotransferase deficiencyV Valayannopoulos, N Boddaert, K Mention, et al.
Pediatric Research|August 24, 2001
Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patientsP De Lonlay, C Benelli, F Fouque, et al.
Pageof 16