A D'Azzo - JoVE Visualize

Showing results (31-40 of 54) with videos related to

Pageof 6

Sort By:

American Journal of Medical Genetics|August 23, 1996

Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patientE Zammarchi, M A Donati, A Morrone, et al.

The Journal of Biological Chemistry|December 5, 1989

Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related proteinH Morreau, N J Galjart, N Gillemans, et al.

Proceedings of the National Academy of Sciences of the United States of America|December 9, 1998

Correction of murine galactosialidosis by bone marrow-derived macrophages overexpressing human protective protein/cathepsin A under control of the colony-stimulating factor-1 receptor promoterC N Hahn, M del Pilar Martin, X Y Zhou, et al.

The Journal of Biological Chemistry|January 15, 1989

Identification and in vitro reconstitution of lysosomal neuraminidase from human placentaG T van der Horst, N J Galjart, A d'Azzo, et al.

The Biochemical Journal|May 1, 1980

Comparison of the alpha-mannosidases in fibroblast cultures from patients with mannosidosis and mucolipidosis II and from controlsD J Halley, B G Winchester, L J Burditt, et al.

Human Mutation|May 25, 1999

Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosisC M Silva, M H Severini, A Sopelsa, et al.

Human Mutation|January 1, 1994

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosisA Morrone, H Morreau, X Y Zhou, et al.

Molecular Genetics and Metabolism|March 22, 2003

New mutations in two Dutch patients with early infantile galactosialidosisJ Groener, P Maaswinkel-Mooy, V Smit, et al.

Enzyme|January 1, 1987

Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiencyH Galjaard, R Willemsen, A T Hoogeveen, et al.

Human Molecular Genetics|November 7, 2000

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosisE J Bonten, W F Arts, M Beck, et al.

Pageof 6

Showing results (31-40 of 54) with videos related to

Sort By:

Pageof 6

American Journal of Medical Genetics|August 23, 1996

Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patientE Zammarchi, M A Donati, A Morrone, et al.

The Journal of Biological Chemistry|December 5, 1989

Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related proteinH Morreau, N J Galjart, N Gillemans, et al.

Proceedings of the National Academy of Sciences of the United States of America|December 9, 1998

Correction of murine galactosialidosis by bone marrow-derived macrophages overexpressing human protective protein/cathepsin A under control of the colony-stimulating factor-1 receptor promoterC N Hahn, M del Pilar Martin, X Y Zhou, et al.

The Journal of Biological Chemistry|January 15, 1989

Identification and in vitro reconstitution of lysosomal neuraminidase from human placentaG T van der Horst, N J Galjart, A d'Azzo, et al.

The Biochemical Journal|May 1, 1980

Comparison of the alpha-mannosidases in fibroblast cultures from patients with mannosidosis and mucolipidosis II and from controlsD J Halley, B G Winchester, L J Burditt, et al.

Human Mutation|May 25, 1999

Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosisC M Silva, M H Severini, A Sopelsa, et al.

Human Mutation|January 1, 1994

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosisA Morrone, H Morreau, X Y Zhou, et al.

Molecular Genetics and Metabolism|March 22, 2003

New mutations in two Dutch patients with early infantile galactosialidosisJ Groener, P Maaswinkel-Mooy, V Smit, et al.

Enzyme|January 1, 1987

Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiencyH Galjaard, R Willemsen, A T Hoogeveen, et al.

Human Molecular Genetics|November 7, 2000

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosisE J Bonten, W F Arts, M Beck, et al.

Pageof 6