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Neuromuscular Disorders : NMD
|
January 1, 1993
Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiency
N B Romero, C Marsac, M Paturneau-Jouas, et al.
The Journal of Pediatrics
|
May 1, 1981
Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency
P F Bougnères, J M Saudubray, C Marsac, et al.
Pediatrics
|
December 1, 1981
Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency
F X Coude, H Ogier, C Marsac, et al.
Acta Paediatrica Scandinavica
|
November 1, 1976
Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings
J M Saudubray, C Marsac, C L Cathelineau, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2002
A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction
C Benelli, F Fouque, I Redonnet-Vernhet, et al.
Revue Neurologique
|
January 1, 1991
[Clinical and electrophysiologic study of the peripheral nerve in 28 cases of mitochondrial disease]
B Eymard, A Penicaud, J M Leger, et al.
The New England Journal of Medicine
|
January 10, 1980
Decreased ketogenesis due to deficiency of hepatic carnitine acyl transferase
P F Bougneres, J M Saudubray, C Marsac, et al.
The New England Journal of Medicine
|
December 14, 1978
Dichloroacetate as treatment for congenital lactic acidosis
F X Coude, J M Saudubray, F DeMaugre, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1985
Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts
C Augereau, D Pham Dinh, A Moncion, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 25, 1996
Mitochondria are selective targets for the protective effects of heat shock against oxidative injury
B S Polla, S Kantengwa, D François, et al.
Page
of 10
Search research articles
Search
Showing results (31-40 of 91) with videos related to
Sort By:
Page
of 10
Neuromuscular Disorders : NMD
|
January 1, 1993
Infantile familial cardiomyopathy due to mitochondrial complex I and IV associated deficiency
N B Romero, C Marsac, M Paturneau-Jouas, et al.
The Journal of Pediatrics
|
May 1, 1981
Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency
P F Bougnères, J M Saudubray, C Marsac, et al.
Pediatrics
|
December 1, 1981
Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency
F X Coude, H Ogier, C Marsac, et al.
Acta Paediatrica Scandinavica
|
November 1, 1976
Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings
J M Saudubray, C Marsac, C L Cathelineau, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2002
A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction
C Benelli, F Fouque, I Redonnet-Vernhet, et al.
Revue Neurologique
|
January 1, 1991
[Clinical and electrophysiologic study of the peripheral nerve in 28 cases of mitochondrial disease]
B Eymard, A Penicaud, J M Leger, et al.
The New England Journal of Medicine
|
January 10, 1980
Decreased ketogenesis due to deficiency of hepatic carnitine acyl transferase
P F Bougneres, J M Saudubray, C Marsac, et al.
The New England Journal of Medicine
|
December 14, 1978
Dichloroacetate as treatment for congenital lactic acidosis
F X Coude, J M Saudubray, F DeMaugre, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1985
Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts
C Augereau, D Pham Dinh, A Moncion, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
June 25, 1996
Mitochondria are selective targets for the protective effects of heat shock against oxidative injury
B S Polla, S Kantengwa, D François, et al.
Page
of 10