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[Tay-Sachs disease (beta-hexosaminidase alpha-chain deficiency)].
Okada S, Taniike M.
Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):394-6.
GM2 gangliosidosis with a motor neuron disease phenotype: clinical heterogeneity of hexosaminidase deficiency disease.
Federico A.
Adv Exp Med Biol. 1987;209:19-23. doi: 10.1007/978-1-4684-5302-7_4.
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Pavan E, Peruzzo P, Cattarossi S, Bergamin N, Bordugo A, Sechi A, Scarpa M, Biasizzo J, Colucci F, Dardis A.
Int J Mol Sci. 2024 Jun 16;25(12):6615. doi: 10.3390/ijms25126615.
Hexosaminidase--pseudodeficiency?
Kappler J, Gieselmann V, Propping P.
Am J Hum Genet. 1990 Nov;47(5):880-2.
Inheritance of the enzyme defect in a new hexosaminidase deficiency disease.
Johnson WG, Chutorian AB.
Ann Neurol. 1978 Nov;4(5):399-403. doi: 10.1002/ana.410040503.
GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency.
Cork LC, Munnell JF, Lorenz MD, Murphy JV, Baker HJ, Rattazzi MC.
Science. 1977 May 27;196(4293):1014-7. doi: 10.1126/science.404709.
[Lysosome disease--Sandhoff disease].
Eguchi I, Wakamatsu N, Nakano R, Tsuji S.
Nihon Rinsho. 1993 Sep;51(9):2276-80.
Hexosaminidase assays.
Wendeler M, Sandhoff K.
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[Schindler disease/Kanzaki disease].
Kanzaki T.
Nihon Rinsho. 1995 Dec;53(12):2982-7.
