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Journal of Inherited Metabolic Disease
|
January 1, 1986
Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction
B T Poll-The, J M Saudubray, H Ogier, et al.
The Journal of Steroid Biochemistry and Molecular Biology
|
July 27, 1999
Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV
G Möller, F Leenders, E G van Grunsven, et al.
Nature Genetics
|
February 2, 2000
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
S Ferdinandusse, S Denis, P T Clayton, et al.
European Journal of Pediatrics
|
November 1, 1994
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency
H D Bakker, M Westra, W C Overweg-Plandsoen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 15, 1987
Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome
R J Wanders, C W van Roermund, R Westra, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation
P T Clayton, B D Lake, M Hjelm, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: correlation with pyridoxine responsiveness
R J Wanders, C W van Roermund, S Jurriaans, et al.
American Journal of Human Genetics
|
March 1, 1988
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)
B T Poll-The, F Roels, H Ogier, et al.
The New England Journal of Medicine
|
March 20, 1986
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata
R J Wanders, D Saelman, H S Heymans, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient
M Huizing, U Wendel, W Ruitenbeek, et al.
Page
of 50
Search research articles
Search
Showing results (461-470 of 497) with videos related to
Sort By:
Page
of 50
Journal of Inherited Metabolic Disease
|
January 1, 1986
Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction
B T Poll-The, J M Saudubray, H Ogier, et al.
The Journal of Steroid Biochemistry and Molecular Biology
|
July 27, 1999
Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV
G Möller, F Leenders, E G van Grunsven, et al.
Nature Genetics
|
February 2, 2000
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
S Ferdinandusse, S Denis, P T Clayton, et al.
European Journal of Pediatrics
|
November 1, 1994
Normalisation of severe cranial CT scan abnormalities after biotin in a case of biotinidase deficiency
H D Bakker, M Westra, W C Overweg-Plandsoen, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 15, 1987
Alanine glyoxylate aminotransferase and the urinary excretion of oxalate and glycollate in hyperoxaluria type I and the Zellweger syndrome
R J Wanders, C W van Roermund, R Westra, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation
P T Clayton, B D Lake, M Hjelm, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Diversity in residual alanine glyoxylate aminotransferase activity in hyperoxaluria type I: correlation with pyridoxine responsiveness
R J Wanders, C W van Roermund, S Jurriaans, et al.
American Journal of Human Genetics
|
March 1, 1988
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)
B T Poll-The, F Roels, H Ogier, et al.
The New England Journal of Medicine
|
March 20, 1986
Genetic relation between the Zellweger syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata
R J Wanders, D Saelman, H S Heymans, et al.
Journal of Inherited Metabolic Disease
|
August 1, 1998
Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient
M Huizing, U Wendel, W Ruitenbeek, et al.
Page
of 50