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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.
Journal of Inherited Metabolic Disease
|
April 23, 2003
Plasma pipecolic acid is frequently elevated in non-peroxisomal disease
J C M Baas, R van de Laar, L Dorland, et al.
Neuropediatrics
|
July 13, 1999
Pontocerebellar hypoplasia associated with respiratory-chain defects
T J de Koning, L S de Vries, F Groenendaal, et al.
Neurology
|
December 11, 2002
Biochemical markers predicting survival in peroxisome biogenesis disorders
J Gootjes, P A W Mooijer, C Dekker, et al.
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of 13
Search research articles
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Showing results (61-70 of 127) with videos related to
Sort By:
Page
of 13
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.
Journal of Inherited Metabolic Disease
|
April 23, 2003
Plasma pipecolic acid is frequently elevated in non-peroxisomal disease
J C M Baas, R van de Laar, L Dorland, et al.
Neuropediatrics
|
July 13, 1999
Pontocerebellar hypoplasia associated with respiratory-chain defects
T J de Koning, L S de Vries, F Groenendaal, et al.
Neurology
|
December 11, 2002
Biochemical markers predicting survival in peroxisome biogenesis disorders
J Gootjes, P A W Mooijer, C Dekker, et al.
Page
of 13