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Journal of Medical Genetics
|
December 1, 1998
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
C E Beesley, E P Young, A Vellodi, et al.
The Biochemical Journal
|
February 1, 1974
Mannosidosis in Angus cattle. The enzymic defect
N C Phillips, D Robinson, B G Winchester, et al.
American Journal of Medical Genetics
|
June 5, 1995
Late-infantile Batten disease: purification of the subunit c of the mitochondrial ATP synthase from storage material
K Hagopian, B D Lake, B G Winchester, et al.
FEBS Letters
|
January 19, 1999
Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders
O Diettrich, K Mills, A W Johnson, et al.
Molecular Genetics and Metabolism
|
September 23, 2006
Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
Clare E Beesley, Daniela Concolino, Mirella Filocamo, et al.
Journal of Medical Genetics
|
April 1, 1996
The molecular defect underlying canine fucosidosis
B J Skelly, D R Sargan, M E Herrtage, et al.
The Biochemical Journal
|
August 15, 1992
Substrate specificity of the bovine and feline neutral alpha-mannosidases
R De Gasperi, S al Daher, B G Winchester, et al.
Journal of Inherited Metabolic Disease
|
August 2, 2003
Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx
P B Mills, K Mills, N Mian, et al.
Journal of Inherited Metabolic Disease
|
September 10, 2005
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)
C E Beesley, M Jackson, E P Young, et al.
FEBS Letters
|
October 31, 1983
Swainsonine affects the processing of glycoproteins in vivo
D J Abraham, R Sidebothom, B G Winchester, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 51) with videos related to
Sort By:
Page
of 6
Journal of Medical Genetics
|
December 1, 1998
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
C E Beesley, E P Young, A Vellodi, et al.
The Biochemical Journal
|
February 1, 1974
Mannosidosis in Angus cattle. The enzymic defect
N C Phillips, D Robinson, B G Winchester, et al.
American Journal of Medical Genetics
|
June 5, 1995
Late-infantile Batten disease: purification of the subunit c of the mitochondrial ATP synthase from storage material
K Hagopian, B D Lake, B G Winchester, et al.
FEBS Letters
|
January 19, 1999
Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders
O Diettrich, K Mills, A W Johnson, et al.
Molecular Genetics and Metabolism
|
September 23, 2006
Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
Clare E Beesley, Daniela Concolino, Mirella Filocamo, et al.
Journal of Medical Genetics
|
April 1, 1996
The molecular defect underlying canine fucosidosis
B J Skelly, D R Sargan, M E Herrtage, et al.
The Biochemical Journal
|
August 15, 1992
Substrate specificity of the bovine and feline neutral alpha-mannosidases
R De Gasperi, S al Daher, B G Winchester, et al.
Journal of Inherited Metabolic Disease
|
August 2, 2003
Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx
P B Mills, K Mills, N Mian, et al.
Journal of Inherited Metabolic Disease
|
September 10, 2005
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)
C E Beesley, M Jackson, E P Young, et al.
FEBS Letters
|
October 31, 1983
Swainsonine affects the processing of glycoproteins in vivo
D J Abraham, R Sidebothom, B G Winchester, et al.
Page
of 6