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Journal of Inherited Metabolic Disease
|
January 1, 1990
Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts
F A Wijburg, N Feller, W Ruitenbeek, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1987
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment
R B Schutgens, R J Wanders, H S Heymans, et al.
Biochemical and Biophysical Research Communications
|
February 13, 2001
Functional analysis of mutant human carnitine acylcarnitine translocases in yeast
L IJlst, C W van Roermund, V Iacobazzi, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Formation of 2,3-pristenic acid and 3-hydroxypristanic acid from pristanic acid in human liver
N M Verhoeven, D S Schor, G A Jansen, et al.
Human Molecular Genetics
|
April 18, 2000
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease
G A Jansen, E M Hogenhout, S Ferdinandusse, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Diagnostic work-up of a peroxisomal patient
J G Leroy, M Espeel, J F Gadisseux, et al.
The Journal of Biological Chemistry
|
September 3, 1998
Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (Peroxisomal ghosts), representing a novel complementation group in mammals
N Kinoshita, K Ghaedi, N Shimozawa, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2005
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type
L Van Maldergem, A B Moser, M-F Vincent, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
October 31, 1991
Accumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patients
R J Wanders, M Casteels, G P Mannaerts, et al.
European Journal of Pediatrics
|
February 1, 1986
Impaired plasmalogen metabolism in infantile Refsum's disease
B T Poll-Thé, H Ogier, J M Saudubray, et al.
Page
of 50
Search research articles
Search
Showing results (331-340 of 497) with videos related to
Sort By:
Page
of 50
Journal of Inherited Metabolic Disease
|
January 1, 1990
Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts
F A Wijburg, N Feller, W Ruitenbeek, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1987
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment
R B Schutgens, R J Wanders, H S Heymans, et al.
Biochemical and Biophysical Research Communications
|
February 13, 2001
Functional analysis of mutant human carnitine acylcarnitine translocases in yeast
L IJlst, C W van Roermund, V Iacobazzi, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Formation of 2,3-pristenic acid and 3-hydroxypristanic acid from pristanic acid in human liver
N M Verhoeven, D S Schor, G A Jansen, et al.
Human Molecular Genetics
|
April 18, 2000
Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease
G A Jansen, E M Hogenhout, S Ferdinandusse, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1995
Diagnostic work-up of a peroxisomal patient
J G Leroy, M Espeel, J F Gadisseux, et al.
The Journal of Biological Chemistry
|
September 3, 1998
Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (Peroxisomal ghosts), representing a novel complementation group in mammals
N Kinoshita, K Ghaedi, N Shimozawa, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2005
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type
L Van Maldergem, A B Moser, M-F Vincent, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
October 31, 1991
Accumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patients
R J Wanders, M Casteels, G P Mannaerts, et al.
European Journal of Pediatrics
|
February 1, 1986
Impaired plasmalogen metabolism in infantile Refsum's disease
B T Poll-Thé, H Ogier, J M Saudubray, et al.
Page
of 50