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American Journal of Human Genetics
|
May 1, 1996
Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits
S Ushikubo, T Aoyama, T Kamijo, et al.
Genomics
|
April 1, 1996
3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients
S P Wang, M F Robert, K M Gibson, et al.
Biological Psychiatry
|
March 21, 2001
Significantly reduced docosahexaenoic and docosapentaenoic acid concentrations in erythrocyte membranes from schizophrenic patients compared with a carefully matched control group
J Assies, R Lieverse, P Vreken, et al.
Journal of Inherited Metabolic Disease
|
July 17, 1999
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
P G Barth, R J Wanders, P Vreken, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
Bifunctional protein deficiency: complementation within the same group suggesting differential enzyme defects and clues to the underlying basis
E G Van Grunsven, E van Berkel, H Lemonde, et al.
Biochimica Et Biophysica Acta
|
May 8, 1992
Characteristics and subcellular localization of pristanoyl-CoA synthetase in rat liver
R J Wanders, S Denis, C W van Roermund, et al.
Journal of Inherited Metabolic Disease
|
November 20, 1998
Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis
N M Verhoeven, C Jakobs, H J ten Brink, et al.
Journal of Inherited Metabolic Disease
|
October 8, 1998
Lactic acidosis in long-chain fatty acid beta-oxidation disorders
F V Ventura, J P Ruiter, L IJlst, et al.
European Journal of Pediatrics
|
October 1, 1994
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder
A C Sewell, S W Bender, S Wirth, et al.
The Journal of Biological Chemistry
|
May 30, 1998
Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency
E C de Vet, L Ijlst, W Oostheim, et al.
Page
of 50
Search research articles
Search
Showing results (161-170 of 497) with videos related to
Sort By:
Page
of 50
American Journal of Human Genetics
|
May 1, 1996
Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits
S Ushikubo, T Aoyama, T Kamijo, et al.
Genomics
|
April 1, 1996
3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients
S P Wang, M F Robert, K M Gibson, et al.
Biological Psychiatry
|
March 21, 2001
Significantly reduced docosahexaenoic and docosapentaenoic acid concentrations in erythrocyte membranes from schizophrenic patients compared with a carefully matched control group
J Assies, R Lieverse, P Vreken, et al.
Journal of Inherited Metabolic Disease
|
July 17, 1999
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
P G Barth, R J Wanders, P Vreken, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
Bifunctional protein deficiency: complementation within the same group suggesting differential enzyme defects and clues to the underlying basis
E G Van Grunsven, E van Berkel, H Lemonde, et al.
Biochimica Et Biophysica Acta
|
May 8, 1992
Characteristics and subcellular localization of pristanoyl-CoA synthetase in rat liver
R J Wanders, S Denis, C W van Roermund, et al.
Journal of Inherited Metabolic Disease
|
November 20, 1998
Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis
N M Verhoeven, C Jakobs, H J ten Brink, et al.
Journal of Inherited Metabolic Disease
|
October 8, 1998
Lactic acidosis in long-chain fatty acid beta-oxidation disorders
F V Ventura, J P Ruiter, L IJlst, et al.
European Journal of Pediatrics
|
October 1, 1994
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder
A C Sewell, S W Bender, S Wirth, et al.
The Journal of Biological Chemistry
|
May 30, 1998
Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency
E C de Vet, L Ijlst, W Oostheim, et al.
Page
of 50