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Advances in Experimental Medicine and Biology
|
March 10, 2000
Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma
P Vreken, A E van Lint, A H Bootsma, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay
P T Clayton, S Eckhardt, J Wilson, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
July 13, 1996
[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]
C M Aalfs, R C Hennekam, R J Wanders, et al.
Human Genetics
|
October 1, 1991
X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus
L Van Maldergem, M Espeel, F Roels, et al.
Journal of Lipid Research
|
December 6, 2001
Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid
S Ferdinandusse, S Denis, P A Mooijer, et al.
Virchows Archiv : an International Journal of Pathology
|
July 6, 2000
Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency
I Kerckaert, B T Poll-The, M Espeel, et al.
Biochimica Et Biophysica Acta
|
January 9, 1985
The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts
G Schrakamp, R B Schutgens, R J Wanders, et al.
Journal of Chromatography. B, Biomedical Sciences and Applications
|
September 24, 1998
Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry
P Vreken, A E van Lint, A H Bootsma, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1989
Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy
R J Wanders, E A Wiemer, S Brul, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
October 25, 2000
Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects
D Skladal, J O Sass, H Geiger, et al.
Page
of 50
Search research articles
Search
Showing results (261-270 of 497) with videos related to
Sort By:
Page
of 50
Advances in Experimental Medicine and Biology
|
March 10, 2000
Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma
P Vreken, A E van Lint, A H Bootsma, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay
P T Clayton, S Eckhardt, J Wilson, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
July 13, 1996
[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism]
C M Aalfs, R C Hennekam, R J Wanders, et al.
Human Genetics
|
October 1, 1991
X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus
L Van Maldergem, M Espeel, F Roels, et al.
Journal of Lipid Research
|
December 6, 2001
Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid
S Ferdinandusse, S Denis, P A Mooijer, et al.
Virchows Archiv : an International Journal of Pathology
|
July 6, 2000
Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency
I Kerckaert, B T Poll-The, M Espeel, et al.
Biochimica Et Biophysica Acta
|
January 9, 1985
The cerebro-hepato-renal (Zellweger) syndrome. Impaired de novo biosynthesis of plasmalogens in cultured skin fibroblasts
G Schrakamp, R B Schutgens, R J Wanders, et al.
Journal of Chromatography. B, Biomedical Sciences and Applications
|
September 24, 1998
Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry
P Vreken, A E van Lint, A H Bootsma, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1989
Prenatal diagnosis of Zellweger syndrome by direct visualization of peroxisomes in chorionic villus fibroblasts by immunofluorescence microscopy
R J Wanders, E A Wiemer, S Brul, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
October 25, 2000
Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects
D Skladal, J O Sass, H Geiger, et al.
Page
of 50