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  • 検索条件 : 絞込み (MeSH = Sandhoff Disease / enzymology)
生物種 リソース名 タイトル
ヒト・動物細胞 NHSF46(RCB0162) , GM2-1TKB(RCB0697) Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.
ヒト・動物細胞 CHO Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.