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Journal of Inherited Metabolic Disease
|
January 1, 1984
4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review
D Rating, F Hanefeld, H Siemes, et al.
Clinical Chemistry
|
May 1, 1981
Laser nephelometry of orosomucoid in serum of newborns: reference intervals and relation to bacterial infections
J Bienvenu, L Sann, F Bienvenu, et al.
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.
Pediatrie
|
September 1, 1979
[Immunochemical study of acid alpha-1,4-glucosidase in 7 patients with type II glycogenosis]
J Bienvenu, M Mathieu, C Collombel, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
First-trimester prenatal diagnosis of Canavan disease
M O Rolland, P Divry, G Mandon, et al.
Human Mutation
|
January 1, 1995
A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient
R L Touraine, M O Rolland, P Divry, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
Sudden infant death syndrome: organic acid profiles in cerebrospinal fluid from 47 children and the occurrence of N-acetylaspartic acid
P Divry, C Vianey-Liaud, C Jakobs, et al.
Advances in Nephrology From the Necker Hospital
|
January 1, 1995
Primary hyperoxaluria type 1: the therapeutic dilemma
P Cochat, A Deloraine, F Olive, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 15, 1983
General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases
N Gregersen, S Kølvraa, K Rasmussen, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
A new case of isolated sulphite oxidase deficiency with rapid fatal outcome
C Vianey-Liaud, P Desjacques, J Gaulme, et al.
Page
of 12
Search research articles
Search
Showing results (61-70 of 114) with videos related to
Sort By:
Page
of 12
Journal of Inherited Metabolic Disease
|
January 1, 1984
4-Hydroxybutyric aciduria: a new inborn error of metabolism. I. Clinical review
D Rating, F Hanefeld, H Siemes, et al.
Clinical Chemistry
|
May 1, 1981
Laser nephelometry of orosomucoid in serum of newborns: reference intervals and relation to bacterial infections
J Bienvenu, L Sann, F Bienvenu, et al.
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.
Pediatrie
|
September 1, 1979
[Immunochemical study of acid alpha-1,4-glucosidase in 7 patients with type II glycogenosis]
J Bienvenu, M Mathieu, C Collombel, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
First-trimester prenatal diagnosis of Canavan disease
M O Rolland, P Divry, G Mandon, et al.
Human Mutation
|
January 1, 1995
A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient
R L Touraine, M O Rolland, P Divry, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1990
Sudden infant death syndrome: organic acid profiles in cerebrospinal fluid from 47 children and the occurrence of N-acetylaspartic acid
P Divry, C Vianey-Liaud, C Jakobs, et al.
Advances in Nephrology From the Necker Hospital
|
January 1, 1995
Primary hyperoxaluria type 1: the therapeutic dilemma
P Cochat, A Deloraine, F Olive, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 15, 1983
General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases
N Gregersen, S Kølvraa, K Rasmussen, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
A new case of isolated sulphite oxidase deficiency with rapid fatal outcome
C Vianey-Liaud, P Desjacques, J Gaulme, et al.
Page
of 12