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Journal of Inherited Metabolic Disease|October 22, 2008

A Brazilian galactosialidosis patient given renal transplantation: a case reportA Kiss, P R G Zen, V Bittencourt, et al.

Pharmacogenetics|December 11, 1999

Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: mechanism for TPMT protein deficiency inherited by TPMT*2, TPMT*3A, TPMT*3B or TPMT*3CH L Tai, M Y Fessing, E J Bonten, et al.

Cell|September 9, 1988

Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteasesN J Galjart, N Gillemans, A Harris, et al.

Human Molecular Genetics|February 1, 1997

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidaseC N Hahn, M del Pilar Martin, M Schröder, et al.

Human Molecular Genetics|September 16, 1998

Lack of PPCA expression only partially coincides with lysosomal storage in galactosialidosis mice: indirect evidence for spatial requirement of the catalytic rather than the protective function of PPCAR J Rottier, C N Hahn, L W Mann, et al.

Human Mutation|September 15, 2004

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosisT Georgiou, A Drousiotou, Y Campos, et al.

Cytogenetics and Cell Genetics|January 1, 1993

Multiple and sensitive fluorescence in situ hybridization with rhodamine-, fluorescein-, and coumarin-labeled DNAsJ Wiegant, C C Wiesmeijer, J M Hoovers, et al.

American Journal of Human Genetics|April 1, 1986

Two abnormalities of hexosaminidase A in clinically normal individualsE E Grebner, D A Mansfield, S S Raghavan, et al.

Pediatric Research|June 1, 1996

Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 familiesW J Kleijer, G C Geilen, H C Janse, et al.

Human Mutation|March 29, 2000

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvementA Morrone, T Bardelli, M A Donati, et al.

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Showing results (41-50 of 54) with videos related to

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Journal of Inherited Metabolic Disease|October 22, 2008

A Brazilian galactosialidosis patient given renal transplantation: a case reportA Kiss, P R G Zen, V Bittencourt, et al.

Pharmacogenetics|December 11, 1999

Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: mechanism for TPMT protein deficiency inherited by TPMT*2, TPMT*3A, TPMT*3B or TPMT*3CH L Tai, M Y Fessing, E J Bonten, et al.

Cell|September 9, 1988

Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteasesN J Galjart, N Gillemans, A Harris, et al.

Human Molecular Genetics|February 1, 1997

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidaseC N Hahn, M del Pilar Martin, M Schröder, et al.

Human Molecular Genetics|September 16, 1998

Lack of PPCA expression only partially coincides with lysosomal storage in galactosialidosis mice: indirect evidence for spatial requirement of the catalytic rather than the protective function of PPCAR J Rottier, C N Hahn, L W Mann, et al.

Human Mutation|September 15, 2004

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosisT Georgiou, A Drousiotou, Y Campos, et al.

Cytogenetics and Cell Genetics|January 1, 1993

Multiple and sensitive fluorescence in situ hybridization with rhodamine-, fluorescein-, and coumarin-labeled DNAsJ Wiegant, C C Wiesmeijer, J M Hoovers, et al.

American Journal of Human Genetics|April 1, 1986

Two abnormalities of hexosaminidase A in clinically normal individualsE E Grebner, D A Mansfield, S S Raghavan, et al.

Pediatric Research|June 1, 1996

Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 familiesW J Kleijer, G C Geilen, H C Janse, et al.

Human Mutation|March 29, 2000

beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvementA Morrone, T Bardelli, M A Donati, et al.

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