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Archives of Neurology
|
June 1, 1990
Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family
P J Willems, L Vits, R J Wanders, et al.
Pediatric Research
|
April 1, 1993
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect
H D Bakker, H R Scholte, C Van den Bogert, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1987
A sibship with a mild variant of Zellweger syndrome
P G Barth, R B Schutgens, R J Wanders, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1986
Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: implications for postnatal detection of the disease
R J Wanders, Y R Purvis, H S Heymans, et al.
American Journal of Human Genetics
|
January 23, 1999
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis
E G van Grunsven, E van Berkel, P A Mooijer, et al.
Ultrastructural Pathology
|
November 1, 1993
Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata
M Espeel, J C Heikoop, J A Smeitink, et al.
Neurology
|
May 5, 1999
Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients
P H van Domburg, M A Willemsen, J J Rotteveel, et al.
Journal of Inherited Metabolic Disease
|
August 13, 1998
Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation
N L Tang, J Hui, L K Law, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain
F A Wijburg, R J Wanders, E M van Lie Peters, et al.
Human Molecular Genetics
|
July 13, 1999
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis
S M Houten, G J Romeijn, J Koster, et al.
Page
of 50
Search research articles
Search
Showing results (471-480 of 497) with videos related to
Sort By:
Page
of 50
Archives of Neurology
|
June 1, 1990
Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family
P J Willems, L Vits, R J Wanders, et al.
Pediatric Research
|
April 1, 1993
Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect
H D Bakker, H R Scholte, C Van den Bogert, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1987
A sibship with a mild variant of Zellweger syndrome
P G Barth, R B Schutgens, R J Wanders, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1986
Age-related differences in plasmalogen content of erythrocytes from patients with the cerebro-hepato-renal (Zellweger) syndrome: implications for postnatal detection of the disease
R J Wanders, Y R Purvis, H S Heymans, et al.
American Journal of Human Genetics
|
January 23, 1999
Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis
E G van Grunsven, E van Berkel, P A Mooijer, et al.
Ultrastructural Pathology
|
November 1, 1993
Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata
M Espeel, J C Heikoop, J A Smeitink, et al.
Neurology
|
May 5, 1999
Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients
P H van Domburg, M A Willemsen, J J Rotteveel, et al.
Journal of Inherited Metabolic Disease
|
August 13, 1998
Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation
N L Tang, J Hui, L K Law, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain
F A Wijburg, R J Wanders, E M van Lie Peters, et al.
Human Molecular Genetics
|
July 13, 1999
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis
S M Houten, G J Romeijn, J Koster, et al.
Page
of 50