tyrosine has been researched along with Sandhoff Disease in 2 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 2 (100.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Itoh, K; Kuroki, Y; Nadaoka, Y; Sakuraba, H; Tanaka, T | 1 |
Banerjee, P; Berry-Kravis, E; Boyers, MJ; Dawson, G | 1 |
2 other study(ies) available for tyrosine and Sandhoff Disease
Article | Year |
---|---|
A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
Topics: Base Sequence; beta-N-Acetylhexosaminidases; Codon; Consanguinity; Conserved Sequence; Cysteine; DNA Mutational Analysis; Female; Fibroblasts; Fluorescent Antibody Technique; G(M2) Ganglioside; Humans; Infant; Japan; Molecular Sequence Data; Mutation; Protein Structure, Secondary; Sandhoff Disease; Tyrosine | 1995 |
Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
Topics: Adult; Alleles; Amino Acid Sequence; Animals; beta-N-Acetylhexosaminidases; Cell Line; Exons; Female; Genetic Carrier Screening; Hexosaminidase A; Hexosaminidase B; Humans; Macromolecular Substances; Male; Motor Neuron Disease; Point Mutation; Protein Structure, Secondary; Sandhoff Disease; Serine; Transfection; Tyrosine | 1994 |