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D Rabier

Showing results (51-60 of 157) with videos related to

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Prenatal Diagnosis|June 1, 1989
Prenatal diagnosis of propionic acidemia: amniocentesis at the 11th week of pregnancyB Chadefaux, D Rabier, J P Bonnefont, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficienciesD Rabier, C Narcy, J Bardet, et al.
Advances in Experimental Medicine and Biology|January 1, 1982
A mechanism for valproate-induced hyperammonemiaF X Coudé, D Rabier, L Cathelineau, et al.
Annales De Biologie Clinique|January 1, 1995
[Contribution of ion exchange chromatography of amino acids to the diagnosis of aspartylglucosaminuria]M Candito, P Parvy, J Bardet, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamateN Guffon, C Vianey-Saban, J Bourgeois, et al.
Human Genetics|March 1, 1996
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in FranceB Fromenty, A Mansouri, J P Bonnefont, et al.
Human Mutation|February 6, 1998
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemiaP Calvas, B Ségues, J M Rozet, et al.
American Journal of Medical Genetics|April 1, 1990
Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestationB Chadefaux, I Ceballos, D Rabier, et al.
Human Molecular Genetics|May 1, 1994
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic patternB Gilbert-Dussardier, D Rabier, S Strautnieks, et al.
Pediatric Research|June 1, 1981
A mechanism for valproate-induced hyperammonemiaF X Coude, D Rabier, L Cathelineau, et al.
Pageof 16

Showing results (51-60 of 157) with videos related to

Sort By:
Pageof 16
Prenatal Diagnosis|June 1, 1989
Prenatal diagnosis of propionic acidemia: amniocentesis at the 11th week of pregnancyB Chadefaux, D Rabier, J P Bonnefont, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Arginine remains an essential amino acid after liver transplantation in urea cycle enzyme deficienciesD Rabier, C Narcy, J Bardet, et al.
Advances in Experimental Medicine and Biology|January 1, 1982
A mechanism for valproate-induced hyperammonemiaF X Coudé, D Rabier, L Cathelineau, et al.
Annales De Biologie Clinique|January 1, 1995
[Contribution of ion exchange chromatography of amino acids to the diagnosis of aspartylglucosaminuria]M Candito, P Parvy, J Bardet, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamateN Guffon, C Vianey-Saban, J Bourgeois, et al.
Human Genetics|March 1, 1996
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in FranceB Fromenty, A Mansouri, J P Bonnefont, et al.
Human Mutation|February 6, 1998
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemiaP Calvas, B Ségues, J M Rozet, et al.
American Journal of Medical Genetics|April 1, 1990
Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestationB Chadefaux, I Ceballos, D Rabier, et al.
Human Molecular Genetics|May 1, 1994
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic patternB Gilbert-Dussardier, D Rabier, S Strautnieks, et al.
Pediatric Research|June 1, 1981
A mechanism for valproate-induced hyperammonemiaF X Coude, D Rabier, L Cathelineau, et al.
Pageof 16