glycine and Acid beta-Glucosidase Deficiency

glycine has been researched along with Acid beta-Glucosidase Deficiency in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (75.00)18.2507
2000's0 (0.00)29.6817
2010's1 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Alam, A; Amato, D; Assouline, S; Dupre, N; Fon, EA; Franche, LA; Gan-Or, Z; Kalia, LV; Postuma, RB; Rivard, GE; Roncière, L; Ruskey, JA; Santiago, R; Spiegelman, D; Trempe, JF; Zhou, S1
Glew, RH; Laubscher, KH; Lee, RE; Okinaka, RT1
Andria, G; Filocamo, M; Gatti, R; Parenti, G; Perretti, A; Rizzolo, G; Silvestro, E; Titomanlio, L1
Ben-Yoseph, Y; Choy, FY; Humphries, ML1

Other Studies

4 other study(ies) available for glycine and Acid beta-Glucosidase Deficiency

ArticleYear
The GBA p.Trp378Gly mutation is a probable French-Canadian founder mutation causing Gaucher disease and synucleinopathies.
    Clinical genetics, 2018, Volume: 94, Issue:3-4

    Topics: Adolescent; Adult; Aged; Child, Preschool; Female; Founder Effect; Gaucher Disease; Glucosylceramidase; Glycine; Haplotypes; Heterozygote; Humans; Infant; Male; Middle Aged; Mutation; Polymorphism, Single Nucleotide; Principal Component Analysis; Quebec; Synucleins; Tryptophan; Young Adult

2018
Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene.
    Human mutation, 1994, Volume: 3, Issue:4

    Topics: Base Sequence; Child, Preschool; DNA Mutational Analysis; DNA Primers; Electrophoresis, Polyacrylamide Gel; Female; Gaucher Disease; Glucosylceramidase; Glycine; Humans; Molecular Sequence Data; Nucleic Acid Denaturation; Nucleic Acid Heteroduplexes; Point Mutation; Polymerase Chain Reaction; Pseudogenes; Serine

1994
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.
    Clinical genetics, 1998, Volume: 53, Issue:4

    Topics: Adult; Arginine; Blotting, Western; Cells, Cultured; Female; Gaucher Disease; Glucosylceramidase; Glycine; Humans; Male; Pedigree; Point Mutation; Sequence Analysis, DNA

1998
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
    Human mutation, 1998, Volume: 11, Issue:5

    Topics: Chromosomes, Human, Pair 1; Gaucher Disease; Glycine; Humans; Mutation; Valine

1998