16. Late-onset GM2 gangliosidosis and other hexosaminidase mutations among Jews

Author:

Navon Ruth

Publisher

Elsevier

Reference33 articles.

1. Intracellular degradation of sulforhodamine-GM1: Use for a fluorescence-based characterization of GM2 gangliosidosis variants in fibroblasts and white blood cells;Agmon;Clin. Chim. Acta,1996

2. Clinical and genetic variations in the syndrome of GM2 gangliosidosis due to hexosaminidase A deficiency;Argov;Ann. Neurol.,1984

3. Tay-Sachs disease in a Moroccan Jewish family. A possible new mutation;Bach;Israel J. Med. Sci.,1976

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

5. Faulty association of the α- and β-subunits in some forms of β-hexosaminidase deficiency;d'Azzo;J. Biol. Chem.,1984

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1. GM2-gangliosidoses;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020

2. Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities;Journal of Child Neurology;2019-02-13

3. GM2-Gangliosidoses;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2015

4. Achalasia in a Patient with Adult-Onset Tay-Sachs Disease;Digestive Diseases and Sciences;2006-01

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