(Q33630691)

28 July 2017

Hexosaminidase A deficiency presenting as juvenile progressive dystonia (English)

1 reference

28 July 2017

Hardie RJ

1

1 reference

28 July 2017

Young EP

series ordinal

2

1 reference

28 July 2017

Morgan-Hughes JA

series ordinal

3

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 March 1988

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

28 July 2017

1 reference

28 July 2017

51

1 reference

28 July 2017

3

1 reference

28 July 2017

446-447

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032879

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032879

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032879

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032879

Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032879

The clinical spectrum of hexosaminidase deficiency diseases

30 October 2018

1 reference

12 December 2020

Clinical and genetic variations in the syndrome of adult GM2 gangliodosis resulting from hexosaminidase a deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.51.3.446

1 reference

28 July 2017

1 reference

28 July 2017

1 reference