A BamHI RFLP in the human arylsulfatase A gene

Autor Polten, A., Gieselmann, V.
Vydáno 1990

Hexosaminidase--pseudodeficiency?

Autor Kappler, J, Gieselmann, V, Propping, P
Vydáno 1990

Multiple mutations in a specific gene in a small geographic area: a common phenomenon?

Autor Zlotogora, J., Gieselmann, V., Bach, G.
Vydáno 1996

Antibody to mannose 6-phosphate specific receptor induces receptor deficiency in human fibroblasts.

Autor von Figura, K, Gieselmann, V, Hasilik, A
Vydáno 1984

Mannose 6-phosphate-specific receptor is a transmembrane protein with a C-terminal extension oriented towards the cytosol.

Autor von Figura, K, Gieselmann, V, Hasilik, A
Vydáno 1985

Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area.

Autor Heinisch, U, Zlotogora, J, Kafert, S, Gieselmann, V
Vydáno 1995

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.

Autor Gieselmann, V, Polten, A, Kreysing, J, von Figura, K
Vydáno 1989

Recognition of human urine alpha-N-acetylglucosaminidase by rat hepatocytes. Involvement of receptors specific for galactose, mannose 6-phosphate and mannose.

Autor Ullrich, K, Basner, R, Gieselmann, V, Von Figura, K
Vydáno 1979

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

Autor Gieselmann, V, Fluharty, A L, Tønnesen, T, Von Figura, K
Vydáno 1991

Four monoclonal antibodies inhibit the recognition of arylsulphatase A by the lysosomal enzyme phosphotransferase.

Autor Sommerlade, H J, Hille-Rehfeld, A, von Figura, K, Gieselmann, V
Vydáno 1994

Restoration of arylsulphatase A activity in human-metachromatic-leucodystrophy fibroblasts via retroviral-vector-mediated gene transfer.

Autor Rommerskirch, W, Fluharty, A L, Peters, C, von Figura, K, Gieselmann, V
Vydáno 1991

Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.

Autor Fluharty, A L, Fluharty, C B, Bohne, W, von Figura, K, Gieselmann, V
Vydáno 1991

A single origin for the most frequent mutation causing late infantile metachromatic leucodystrophy.

Autor Zlotogora, J, Furman-Shaharabani, Y, Harris, A, Barth, M L, von Figura, K, Gieselmann, V
Vydáno 1994

High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.

Autor Kreysing, J, Bohne, W, Bösenberg, C, Marchesini, S, Turpin, J C, Baumann, N, von Figura, K, Gieselmann, V
Vydáno 1993

Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene

Autor De Deyn PP, D'Hooge R, Mansson JE, Wittke D, Franken S, Lüllmann-Rauch R, Matzner U, Gieselmann V
Vydáno 2006-08-01

Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene

Autor Franken, S, Wittke, D, Mansson, JE, D'Hooge, R, De Deyn, PP, Lüllmann-Rauch, R, Matzner, U, Gieselmann, V
Vydáno 2006

Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease

Autor Penzien, J. M., Kappler, J., Herschkowitz, N., Schuknecht, B., Leinekugel, P., Propping, P., Tønnesen, T., Lou, H., Moser, H., Zierz, S., Conzelmann, E., Gieselmann, V.
Vydáno 1993