M A Kroos - JoVE Visualize

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Journal of Inherited Metabolic Disease|August 1, 1997

A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type IIM A Kroos, A E Waitfield, M Joosse, et al.

The Journal of Clinical Investigation|February 1, 1991

Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of miceA T Van der Ploeg, M A Kroos, R Willemsen, et al.

The Histochemical Journal|August 1, 1995

A biochemical and immunocytochemical study on the targeting of alglucerase in murine liverR Willemsen, J J Tibbe, M A Kroos, et al.

Human Mutation|January 1, 1997

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotypeM A Kroos, M Van der Kraan, O P Van Diggelen, et al.

The EMBO Journal|June 1, 1988

Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complexL H Hoefsloot, M Hoogeveen-Westerveld, M A Kroos, et al.

Biochemical and Biophysical Research Communications|September 16, 1991

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type IIM M Hermans, E de Graaff, M A Kroos, et al.

Gene|January 4, 2014

Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe diseaseM I Nilsson, M A Kroos, A J Reuser, et al.

Human Mutation|April 1, 1998

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestryM M Hermans, M A Kroos, J A Smeitink, et al.

The Biochemical Journal|February 1, 1993

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type IIM M Hermans, E de Graaff, M A Kroos, et al.

American Journal of Human Genetics|January 1, 1990

Adult and infantile glycogenosis type II in one family, explained by allelic diversityL H Hoefsloot, A T van der Ploeg, M A Kroos, et al.

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Showing results (11-20 of 42) with videos related to

Sort By:

Pageof 5

Journal of Inherited Metabolic Disease|August 1, 1997

A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type IIM A Kroos, A E Waitfield, M Joosse, et al.

The Journal of Clinical Investigation|February 1, 1991

Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of miceA T Van der Ploeg, M A Kroos, R Willemsen, et al.

The Histochemical Journal|August 1, 1995

A biochemical and immunocytochemical study on the targeting of alglucerase in murine liverR Willemsen, J J Tibbe, M A Kroos, et al.

Human Mutation|January 1, 1997

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotypeM A Kroos, M Van der Kraan, O P Van Diggelen, et al.

The EMBO Journal|June 1, 1988

Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complexL H Hoefsloot, M Hoogeveen-Westerveld, M A Kroos, et al.

Biochemical and Biophysical Research Communications|September 16, 1991

Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type IIM M Hermans, E de Graaff, M A Kroos, et al.

Gene|January 4, 2014

Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe diseaseM I Nilsson, M A Kroos, A J Reuser, et al.

Human Mutation|April 1, 1998

Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestryM M Hermans, M A Kroos, J A Smeitink, et al.

The Biochemical Journal|February 1, 1993

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type IIM M Hermans, E de Graaff, M A Kroos, et al.

American Journal of Human Genetics|January 1, 1990

Adult and infantile glycogenosis type II in one family, explained by allelic diversityL H Hoefsloot, A T van der Ploeg, M A Kroos, et al.

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