Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency

Author:

Rubin Michael,Karpati George,Wolfe Leonhard S.,Carpenter Stirling,Klavins Maris H.,Mahuran Don J.

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference45 articles.

1. Late onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review;Adams;Dev. Med. Child Neurol.,1986

2. Heterogeneity of human hepatic N-acetyl-beta-d-hexosaminidase A activity toward natural glycosphingolipid substrates;Bach;J. Biol. Chem.,1975

3. Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians;Barbeau;Can. J. Neurol. Sci.,1984

4. Diagnosis and carrier detection of Tay-Sachs disease: direct determination of hexosaminidase A using 4-methylumbelliferyl derivatives of N-acetyl-glycosamine-6-sulfate and N-acetylgalactosamine-6-sulfate;Ben-Joseph;Am. J. Hum. Genet.,1985

5. The biochemical genetics of the hexosaminidase system in man;Beutler;Am. J. Hum. Genet.,1979

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