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Journal of Neurology, Neurosurgery, and Psychiatry
|
July 1, 1991
Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male
A M Chancellor, C P Warlow, J N Webb, et al.
Clinical Genetics
|
September 1, 1984
Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis
G T Besley, D M Broadhead, E Lawlor, et al.
Archives of Disease in Childhood
|
March 23, 1999
Generalised uridine diphosphate galactose-4-epimerase deficiency
J H Walter, R E Roberts, G T Besley, et al.
Human Molecular Genetics
|
February 1, 1993
Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue
C A Sargent, N A Affara, E Bentley, et al.
Nature Genetics
|
November 5, 1997
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
G A Jansen, R Ofman, S Ferdinandusse, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation
P T Clayton, B D Lake, M Hjelm, et al.
Human Mutation
|
July 17, 1999
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders
Z Zhang, Y Suzuki, N Shimozawa, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 5, 1996
Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow
L J Fairbairn, L S Lashford, E Spooncer, et al.
Casopis Lekaru Ceskych
|
January 8, 1997
Towards gene therapy of Hurler syndrome
L J Fairbairn, L S Lashford, E Spooncer, et al.
Page
of 7
Search research articles
Search
Showing results (61-70 of 69) with videos related to
Sort By:
Page
of 7
You have reached the last page of results.
This site can display upto 69 results.
Journal of Neurology, Neurosurgery, and Psychiatry
|
July 1, 1991
Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male
A M Chancellor, C P Warlow, J N Webb, et al.
Clinical Genetics
|
September 1, 1984
Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis
G T Besley, D M Broadhead, E Lawlor, et al.
Archives of Disease in Childhood
|
March 23, 1999
Generalised uridine diphosphate galactose-4-epimerase deficiency
J H Walter, R E Roberts, G T Besley, et al.
Human Molecular Genetics
|
February 1, 1993
Cloning of the X-linked glycerol kinase deficiency gene and its identification by sequence comparison to the Bacillus subtilis homologue
C A Sargent, N A Affara, E Bentley, et al.
Nature Genetics
|
November 5, 1997
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
G A Jansen, R Ofman, S Ferdinandusse, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1988
Bile acid analyses in "pseudo-Zellweger" syndrome; clues to the defect in peroxisomal beta-oxidation
P T Clayton, B D Lake, M Hjelm, et al.
Human Mutation
|
July 17, 1999
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders
Z Zhang, Y Suzuki, N Shimozawa, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 5, 1996
Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow
L J Fairbairn, L S Lashford, E Spooncer, et al.
Casopis Lekaru Ceskych
|
January 8, 1997
Towards gene therapy of Hurler syndrome
L J Fairbairn, L S Lashford, E Spooncer, et al.
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of 7