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Biochimica Et Biophysica Acta
|
November 29, 1994
2-Hydroxyphytanic acid oxidase activity in rat and human liver and its deficiency in the Zellweger syndrome
R J Wanders, C W van Roermund, D S Schor, et al.
Biochimica Et Biophysica Acta
|
September 6, 2011
A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies
M Kranendijk, G S Salomons, K M Gibson, et al.
Pediatric Research
|
April 1, 1996
Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines
Y Shigematsu, I Hata, A Nakai, et al.
The New England Journal of Medicine
|
March 21, 1996
Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis
H Mandel, B Brenner, M Berant, et al.
Molecular Genetics and Metabolism
|
April 3, 2004
The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family
S Bekri, C Fossoud, G Plaza, et al.
Molecular Genetics and Metabolism
|
June 1, 2007
Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria?
P Augoustides-Savvopoulou, G S Salomons, J Dotis, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase
H J ten Brink, B T Poll-The, J M Saudubray, et al.
Klinische Padiatrie
|
March 1, 2006
[L-2-hydroxyglutaric aciduria -- a rare cause of macrocephaly]
O Hussmann, D Haas, B A Neubauer, et al.
Prenatal Diagnosis
|
October 1, 1996
Amniotic fluid odd-chain fatty acids are increased in propionic acidaemia
M Coker, M Duran, J B De Klerk, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1984
4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance
K M Gibson, I Jansen, L Sweetman, et al.
Page
of 42
Search research articles
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Showing results (181-190 of 417) with videos related to
Sort By:
Page
of 42
Biochimica Et Biophysica Acta
|
November 29, 1994
2-Hydroxyphytanic acid oxidase activity in rat and human liver and its deficiency in the Zellweger syndrome
R J Wanders, C W van Roermund, D S Schor, et al.
Biochimica Et Biophysica Acta
|
September 6, 2011
A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies
M Kranendijk, G S Salomons, K M Gibson, et al.
Pediatric Research
|
April 1, 1996
Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines
Y Shigematsu, I Hata, A Nakai, et al.
The New England Journal of Medicine
|
March 21, 1996
Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis
H Mandel, B Brenner, M Berant, et al.
Molecular Genetics and Metabolism
|
April 3, 2004
The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family
S Bekri, C Fossoud, G Plaza, et al.
Molecular Genetics and Metabolism
|
June 1, 2007
Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria?
P Augoustides-Savvopoulou, G S Salomons, J Dotis, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase
H J ten Brink, B T Poll-The, J M Saudubray, et al.
Klinische Padiatrie
|
March 1, 2006
[L-2-hydroxyglutaric aciduria -- a rare cause of macrocephaly]
O Hussmann, D Haas, B A Neubauer, et al.
Prenatal Diagnosis
|
October 1, 1996
Amniotic fluid odd-chain fatty acids are increased in propionic acidaemia
M Coker, M Duran, J B De Klerk, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1984
4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritance
K M Gibson, I Jansen, L Sweetman, et al.
Page
of 42