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Review 1. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Authors: Gustavo H B Maegawa; Tracy Stockley; Michael Tropak; Brenda Banwell; Susan Blaser; Fernando Kok; Roberto Giugliani; Don Mahuran; Joe T R Clarke
Journal: Pediatrics Date: 2006-10-02 Impact factor: 7.124

2. Neurophysiological study in chronic GM2 gangliosidosis (hexosaminidase A and B deficiency), with motor neuron disease phenotype.

Authors: M Mondelli; A Rossi; S Palmeri; N Rizzuto; A Federico
Journal: Ital J Neurol Sci Date: 1989-08

3. Hereditary heat-labile hexosaminidase B: a variant whose homozygotes synthesize a functional HEX A.

Authors: R Navon; R Kopel; J Nutman; A Frisch; E Conzelmann; K Sandhoff; A Adam
Journal: Am J Hum Genet Date: 1985-01 Impact factor: 11.025

4. Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

Authors: E Conzelmann; H J Kytzia; R Navon; K Sandhoff
Journal: Am J Hum Genet Date: 1983-09 Impact factor: 11.025

5. Biliary disease in metachromatic leukodystrophy.

Authors: L Heier; A Daneman; J A Lowden; E Cutz; S Craw; D J Martin
Journal: Pediatr Radiol Date: 1983

6. Morphological study on the hereditary neurogenic amyotrophic dogs: accumulation of lipid compound-like structures in the lower motor neuron.

Authors: S Izumo; F Ikuta; A Igata; M Osame; C Yamauchi; S Inada
Journal: Acta Neuropathol Date: 1983 Impact factor: 17.088

7. Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.

Authors: P L Chang; R G Davidson
Journal: Proc Natl Acad Sci U S A Date: 1983-12 Impact factor: 11.205

Review 8. [Sphingolipid storage diseases of the central nervous system: bases of biochemical and clinical heterogeneity].

Authors: K Sandhoff; L Quintern
Journal: Naturwissenschaften Date: 1988-03

9. GM2-ganglioside metabolism in hexosaminidase A deficiency states: determination in situ using labeled GM2 added to fibroblast cultures.

Authors: S S Raghavan; A Krusell; J Krusell; T A Lyerla; E H Kolodny
Journal: Am J Hum Genet Date: 1985-11 Impact factor: 11.025

10. Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.

Authors: A E Harding; E P Young; F Schon
Journal: J Neurol Neurosurg Psychiatry Date: 1987-06 Impact factor: 10.154