Page last updated: 2024-08-17

histidine and Ganglioside Storage Diseases

histidine has been researched along with Ganglioside Storage Diseases in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Fontes, A; Palmeira, MM; Pinto, E; Pinto, RA; Ribeiro, H; Ribeiro, MG; Sá Miranda, MC; Sonin, T1
Kaback, MM; Moskowitz, SM; Neufeld, EF; Paw, BH; Uhrhammer, N; Wright, N1

Other Studies

2 other study(ies) available for histidine and Ganglioside Storage Diseases

ArticleYear
Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.
    Journal of medical genetics, 1996, Volume: 33, Issue:4

    Topics: Adult; Alleles; Amino Acid Sequence; Arginine; beta-N-Acetylhexosaminidases; DNA Mutational Analysis; G(M2) Ganglioside; Gangliosidoses; Hexosaminidase A; Histidine; Humans; Molecular Sequence Data; Pedigree; Phenotype; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Portugal

1996
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.
    The Journal of biological chemistry, 1990, Jun-05, Volume: 265, Issue:16

    Topics: Arginine; Base Sequence; beta-N-Acetylhexosaminidases; Cells, Cultured; Child; Child, Preschool; DNA; Female; Fibroblasts; G(M2) Ganglioside; Gangliosidoses; Histidine; Homozygote; Humans; Lysosomes; Macromolecular Substances; Male; Molecular Sequence Data; Mutation; Nucleic Acid Hybridization; Polymerase Chain Reaction; Transcription, Genetic

1990