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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.
Journal of Inherited Metabolic Disease
|
January 1, 1991
A new type of chondrodysplasia punctata associated with peroxisomal dysfunction
B T Poll-The, P Maroteaux, C Narcy, et al.
Clinical Genetics
|
September 1, 2017
Development and validation of a severity scoring system for Zellweger spectrum disorders
F C C Klouwer, A Meester-Delver, F M Vaz, et al.
Scandinavian Journal of Clinical and Laboratory Investigation. Supplementum
|
January 1, 1993
Peroxisomal beta-oxidation of polyunsaturated long chain fatty acids in human fibroblasts. The polyunsaturated and the saturated long chain fatty acids are retroconverted by the same acyl-CoA oxidase
E Christensen, B Woldseth, T A Hagve, et al.
Human Mutation
|
June 20, 1998
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries
A J Bergman, I E van den Berg, W Brink, et al.
Journal of Inherited Metabolic Disease
|
May 29, 2007
Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance
M A Benninga, M Lilien, T J de Koning, et al.
European Journal of Human Genetics : EJHG
|
July 26, 2000
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population
E A Sistermans, R F de Coo, H M van Beerendonk, et al.
Journal of Inherited Metabolic Disease
|
February 11, 2005
Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency
K de Meer, M J Roef, J B C de Klerk, et al.
European Journal of Human Genetics : EJHG
|
April 21, 2001
A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease
C Rosenberg, C H Wouters, K Szuhai, et al.
Journal of Lipid Research
|
November 4, 2000
Pristanic acid and phytanic acid: naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor alpha
A W Zomer, B van Der Burg, G A Jansen, et al.
Page
of 17
Search research articles
Search
Showing results (81-90 of 169) with videos related to
Sort By:
Page
of 17
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.
Journal of Inherited Metabolic Disease
|
January 1, 1991
A new type of chondrodysplasia punctata associated with peroxisomal dysfunction
B T Poll-The, P Maroteaux, C Narcy, et al.
Clinical Genetics
|
September 1, 2017
Development and validation of a severity scoring system for Zellweger spectrum disorders
F C C Klouwer, A Meester-Delver, F M Vaz, et al.
Scandinavian Journal of Clinical and Laboratory Investigation. Supplementum
|
January 1, 1993
Peroxisomal beta-oxidation of polyunsaturated long chain fatty acids in human fibroblasts. The polyunsaturated and the saturated long chain fatty acids are retroconverted by the same acyl-CoA oxidase
E Christensen, B Woldseth, T A Hagve, et al.
Human Mutation
|
June 20, 1998
Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries
A J Bergman, I E van den Berg, W Brink, et al.
Journal of Inherited Metabolic Disease
|
May 29, 2007
Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance
M A Benninga, M Lilien, T J de Koning, et al.
European Journal of Human Genetics : EJHG
|
July 26, 2000
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population
E A Sistermans, R F de Coo, H M van Beerendonk, et al.
Journal of Inherited Metabolic Disease
|
February 11, 2005
Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency
K de Meer, M J Roef, J B C de Klerk, et al.
European Journal of Human Genetics : EJHG
|
April 21, 2001
A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease
C Rosenberg, C H Wouters, K Szuhai, et al.
Journal of Lipid Research
|
November 4, 2000
Pristanic acid and phytanic acid: naturally occurring ligands for the nuclear receptor peroxisome proliferator-activated receptor alpha
A W Zomer, B van Der Burg, G A Jansen, et al.
Page
of 17