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Clinical and Experimental Rheumatology
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August 19, 2000
Mevalonate kinase deficiency and Dutch type periodic fever
J Frenkel, S M Houten, H R Waterham, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
May 9, 2000
[Identification of the gene for hyper-IgD syndrome: a model of modern genetics]
J P Drenth, H R Waterham, W Kuis, et al.
European Journal of Cell Biology
|
August 1, 1995
Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders
M Espeel, F Roels, M Giros, et al.
European Journal of Pediatrics
|
December 1, 1986
Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid
A Poulos, C van Crugten, P Sharp, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall
R J Soorani-Lunsing, F J van Spronsen, I Stolte-Dijkstra, et al.
Hepatology (Baltimore, Md.)
|
August 1, 1995
Peroxisome mosaicism in the livers of peroxisomal deficiency patients
M Espeel, H Mandel, F Poggi, et al.
Acta Neuropathologica
|
February 17, 2005
Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology
E Aronica, A A M W van Kempen, M van der Heide, et al.
Journal of Inherited Metabolic Disease
|
December 31, 1998
The success of dietary protein restriction in alkaptonuria patients is age-dependent
V de Haas, E C Carbasius Weber, J B de Klerk, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?
B T Poll-The, J P Bonnefont, H Ogier, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology
|
January 1, 1991
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data
D De Craemer, M J Zweens, S Lyonnet, et al.
Page
of 13
Search research articles
Search
Showing results (81-90 of 127) with videos related to
Sort By:
Page
of 13
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.
Nederlands Tijdschrift Voor Geneeskunde
|
May 9, 2000
[Identification of the gene for hyper-IgD syndrome: a model of modern genetics]
J P Drenth, H R Waterham, W Kuis, et al.
European Journal of Cell Biology
|
August 1, 1995
Immunolocalization of a 43 kDa peroxisomal membrane protein in the liver of patients with generalized peroxisomal disorders
M Espeel, F Roels, M Giros, et al.
European Journal of Pediatrics
|
December 1, 1986
Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid
A Poulos, C van Crugten, P Sharp, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2006
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall
R J Soorani-Lunsing, F J van Spronsen, I Stolte-Dijkstra, et al.
Hepatology (Baltimore, Md.)
|
August 1, 1995
Peroxisome mosaicism in the livers of peroxisomal deficiency patients
M Espeel, H Mandel, F Poggi, et al.
Acta Neuropathologica
|
February 17, 2005
Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology
E Aronica, A A M W van Kempen, M van der Heide, et al.
Journal of Inherited Metabolic Disease
|
December 31, 1998
The success of dietary protein restriction in alkaptonuria patients is age-dependent
V de Haas, E C Carbasius Weber, J B de Klerk, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?
B T Poll-The, J P Bonnefont, H Ogier, et al.
Virchows Archiv. A, Pathological Anatomy and Histopathology
|
January 1, 1991
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data
D De Craemer, M J Zweens, S Lyonnet, et al.
Page
of 13