Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient

Author:

Mitsuo Kunihiko,Nakano Takeshi,Kobayashi Takuro,Goto Ikuo,Taniike Masako,Suzuki Kunihiko

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference27 articles.

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4. Ganglioside GM2N-acetyl-β-d-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase levels;Conzelmann;Am. J. Hum. Genet.,1983

5. Absence of hexosaminidase A and B in a normal adult;Dreyfus;New Engl. J. Med.,1975

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