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Prenatal Diagnosis
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May 1, 1994
Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)
B Chadefaux-Vekemans, M O Rolland, S Lyonnet, et al.
Presse Medicale (Paris, France : 1983)
|
November 5, 1988
[Cerebral edema with hyperammonemia in valpromide poisoning. Manifestation in an adult, of a partial deficit in type I carbamylphosphate synthetase]
P Bourrier, N Varache, P Alquier, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
A new case of argininaemia without spastic diplegia in a Portuguese male
L Vilarinho, V Senra, A Vilarinho, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
August 25, 2001
5-Oxoprolinuria: a cause of neonatal metabolic acidosis
D Mitanchez, D Rabier, M Mokhtari, et al.
The European Respiratory Journal
|
September 1, 2001
Response of nitric oxide pathway to L-arginine infusion at the altitude of 4,350 m
J C Schneider, I Blazy, M Déchaux, et al.
Clinical Chemistry
|
November 1, 1995
Free amino acids in amniotic fluid and the prenatal diagnosis of homocystinuria with methylmalonic aciduria
P Parvy, J Bardet, B Chadefaux-Vekemans, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Do criteria exist from urinary organic acids to distinguish beta-oxidation defects?
D Rabier, J Bardet, P Parvy, et al.
American Journal of Medical Genetics
|
February 1, 1989
Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
B Chadefaux, J P Bonnefont, D Rabier, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
March 7, 1998
[Variation of amino acids in relation to age in Down syndrome subjects]
C Mircher, A Salabelle, M A Peeters, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney
K L Chambliss, C F Lee, H Ogier, et al.
Page
of 16
Search research articles
Search
Showing results (61-70 of 157) with videos related to
Sort By:
Page
of 16
Prenatal Diagnosis
|
May 1, 1994
Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)
B Chadefaux-Vekemans, M O Rolland, S Lyonnet, et al.
Presse Medicale (Paris, France : 1983)
|
November 5, 1988
[Cerebral edema with hyperammonemia in valpromide poisoning. Manifestation in an adult, of a partial deficit in type I carbamylphosphate synthetase]
P Bourrier, N Varache, P Alquier, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
A new case of argininaemia without spastic diplegia in a Portuguese male
L Vilarinho, V Senra, A Vilarinho, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
August 25, 2001
5-Oxoprolinuria: a cause of neonatal metabolic acidosis
D Mitanchez, D Rabier, M Mokhtari, et al.
The European Respiratory Journal
|
September 1, 2001
Response of nitric oxide pathway to L-arginine infusion at the altitude of 4,350 m
J C Schneider, I Blazy, M Déchaux, et al.
Clinical Chemistry
|
November 1, 1995
Free amino acids in amniotic fluid and the prenatal diagnosis of homocystinuria with methylmalonic aciduria
P Parvy, J Bardet, B Chadefaux-Vekemans, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Do criteria exist from urinary organic acids to distinguish beta-oxidation defects?
D Rabier, J Bardet, P Parvy, et al.
American Journal of Medical Genetics
|
February 1, 1989
Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
B Chadefaux, J P Bonnefont, D Rabier, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|
March 7, 1998
[Variation of amino acids in relation to age in Down syndrome subjects]
C Mircher, A Salabelle, M A Peeters, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney
K L Chambliss, C F Lee, H Ogier, et al.
Page
of 16