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Literature DB >> 2966237

Hexosaminidase A deficiency presenting as juvenile progressive dystonia.

R J Hardie, E P Young, J A Morgan-Hughes.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1988 PMID： 2966237 PMCID： PMC1032879 DOI： 10.1136/jnnp.51.3.446

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

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9 in total

1. Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients.

Authors: E M Brett; R B Ellis; L Haas; J U Ikonne; B D Lake; A D Patrick; R Stephens
Journal: Arch Dis Child Date: 1973-10 Impact factor: 3.791

2. Juvenile GM2-gangliosidosis. Clinical variant of Tay-Sachs disease or a new disease.

Authors: K Suzuki; I Rapin; Y Suzuki; N Ishii
Journal: Neurology Date: 1970-02 Impact factor: 9.910

3. Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.

Authors: W G Johnson; H J Wigger; H R Karp; L M Glaubiger; L P Rowland
Journal: Ann Neurol Date: 1982-01 Impact factor: 10.422

4. Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis.

Authors: D Meek; L S Wolfe; E Andermann; F Andermann
Journal: Ann Neurol Date: 1984-04 Impact factor: 10.422

5. Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency.

Authors: Z Argov; R Navon
Journal: Ann Neurol Date: 1984-07 Impact factor: 10.422

6. The clinical spectrum of hexosaminidase deficiency diseases.

Authors: W G Johnson
Journal: Neurology Date: 1981-11 Impact factor: 9.910

7. Hexosaminidase-A deficiency presenting as atypical juvenile-onset spinal muscular atrophy.

Authors: S Parnes; G Karpati; S Carpenter; N M Kin; L S Wolfe; L Suranyi
Journal: Arch Neurol Date: 1985-12

8. 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

9. A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.

Authors: W G Johnson; A Chutorian; A Miranda
Journal: Neurology Date: 1977-11 Impact factor: 9.910

9 in total

6 in total

Review 1. Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation.

Authors: R G Gray; M A Preece; S H Green; W Whitehouse; J Winer; A Green
Journal: J Neurol Neurosurg Psychiatry Date: 2000-07 Impact factor: 10.154

2. An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.

Authors: D Barnes; V P Misra; E P Young; P K Thomas; A E Harding
Journal: J Neurol Neurosurg Psychiatry Date: 1991-12 Impact factor: 10.154

Review 3. 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