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American Journal of Human Genetics
|
August 24, 2001
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
H R Waterham, J Koster, G J Romeijn, et al.
Progress in Clinical and Biological Research
|
January 1, 1990
Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes
J M Tager, S Brul, E A Wiemer, et al.
Clinical and Experimental Rheumatology
|
August 19, 2000
Mevalonate kinase deficiency and Dutch type periodic fever
J Frenkel, S M Houten, H R Waterham, et al.
The Journal of Clinical Investigation
|
June 1, 1988
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis
S Brul, A Westerveld, A Strijland, et al.
Prenatal Diagnosis
|
September 1, 1985
The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens
R B Schutgens, G Schrakamp, R J Wanders, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 30, 1986
Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome
R J Wanders, C W van Roermund, C T de Vries, et al.
Genes & Development
|
May 30, 1998
Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function
U Seedorf, M Raabe, P Ellinghaus, et al.
Human Mutation
|
December 19, 2001
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations
S Kemp, A Pujol, H R Waterham, et al.
Biochemical and Biophysical Research Communications
|
February 15, 1985
Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome
J M Tager, W A Van der Beek, R J Wanders, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 27, 1999
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects
F V Ventura, C G Costa, E A Struys, et al.
Page
of 50
Search research articles
Search
Showing results (421-430 of 497) with videos related to
Sort By:
Page
of 50
American Journal of Human Genetics
|
August 24, 2001
Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
H R Waterham, J Koster, G J Romeijn, et al.
Progress in Clinical and Biological Research
|
January 1, 1990
Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes
J M Tager, S Brul, E A Wiemer, et al.
Clinical and Experimental Rheumatology
|
August 19, 2000
Mevalonate kinase deficiency and Dutch type periodic fever
J Frenkel, S M Houten, H R Waterham, et al.
The Journal of Clinical Investigation
|
June 1, 1988
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis
S Brul, A Westerveld, A Strijland, et al.
Prenatal Diagnosis
|
September 1, 1985
The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens
R B Schutgens, G Schrakamp, R J Wanders, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
August 30, 1986
Peroxisomal beta-oxidation of palmitoyl-CoA in human liver homogenates and its deficiency in the cerebro-hepato-renal (Zellweger) syndrome
R J Wanders, C W van Roermund, C T de Vries, et al.
Genes & Development
|
May 30, 1998
Defective peroxisomal catabolism of branched fatty acyl coenzyme A in mice lacking the sterol carrier protein-2/sterol carrier protein-x gene function
U Seedorf, M Raabe, P Ellinghaus, et al.
Human Mutation
|
December 19, 2001
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations
S Kemp, A Pujol, H R Waterham, et al.
Biochemical and Biophysical Research Communications
|
February 15, 1985
Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome
J M Tager, W A Van der Beek, R J Wanders, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 27, 1999
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects
F V Ventura, C G Costa, E A Struys, et al.
Page
of 50