Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.

Por He, G S, Grabowski, G A
Publicado em 1992

Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts.

Por Bergmann, J E, Grabowski, G A
Publicado em 1989

Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting.

Por Fabbro, D, Desnick, R J, Grabowski, G A
Publicado em 1987

Developmental and tissue-specific expression of prosaposin mRNA in murine tissues.

Por Sun, Y., Witte, D. P., Grabowski, G. A.
Publicado em 1994

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations.

Por Theophilus, B, Latham, T, Grabowski, G A, Smith, F I
Publicado em 1989

Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.

Por Theophilus, B D, Latham, T, Grabowski, G A, Smith, F I
Publicado em 1989

Prosaposin: promoter analysis and central-nervous-system-preferential elements for expression in vivo.

Por Sun, Y, Jin, P, Witte, D P, Grabowski, G A
Publicado em 2000

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

Por Zimran, A, Gelbart, T, Westwood, B, Grabowski, G A, Beutler, E
Publicado em 1991

Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

Por Latham, T, Grabowski, G A, Theophilus, B D, Smith, F I
Publicado em 1990

Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

Por Sibille, A, Eng, C M, Kim, S J, Pastores, G, Grabowski, G A
Publicado em 1993

Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site.

Por Dinur, T, Osiecki, K M, Legler, G, Gatt, S, Desnick, R J, Grabowski, G A
Publicado em 1986

Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine.

Por Grabowski, G A, Dinur, T, Osiecki, K M, Kruse, J R, Legler, G, Gatt, S
Publicado em 1985

Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes.

Por Grace, M E, Berg, A, He, G S, Goldberg, L, Horowitz, M, Grabowski, G A
Publicado em 1991

Human acid beta-glucosidase: Northern blot and S1 nuclease analysis of mRNA from HeLa cells and normal and Gaucher disease fibroblasts.

Por Graves, P N, Grabowski, G A, Ludman, M D, Palese, P, Smith, F I
Publicado em 1986

Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease

Por Maas, M., Hangartner, T., Mariani, G., McHugh, K., Moore, S., Grabowski, G. A., Kaplan, P., Vellodi, A., Yee, J., Steinbach, L.
Publicado em 2008

First-trimester prenatal diagnosis of Tay-Sachs disease.

Por Grabowski, G A, Kruse, J R, Goldberg, J D, Chockkalingam, K, Gordon, R E, Blakemore, K J, Mahoney, M J, Desnick, R J
Publicado em 1984