Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease). (Q33734721)

29 July 2017

title

Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease). (English)

1 reference

29 July 2017

1 reference

Schnorf H

1

1 reference

29 July 2017

Gitzelmann R

2

1 reference

29 July 2017

Bosshard NU

3

1 reference

29 July 2017

Spycher M

4

1 reference

29 July 2017

Waespe W

5

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 November 1995

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

29 July 2017

published in

1 reference

29 July 2017

volume

59

1 reference

29 July 2017

issue

5

1 reference

29 July 2017

page(s)

520-523

1 reference

Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073716

Chronic idiopathic ataxic neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073716

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073716

Hexosaminidase A deficiency presenting as juvenile progressive dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073716

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=1073716

Ganglioside storage, hexosaminidase lability, and urinary oligosaccharides in adult Sandhoff's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073716

Classification of peripheral neuropathy: the long and the short of it.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073716

Juvenile Sandhoff disease: a Japanese patient carrying a mutation identical to that found earlier in a Canadian patient.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073716

The Clinical Aspects of Adult Hexosaminidase Deficiencies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073716

Spinocerebellar degeneration: Hexosaminidase A and B deficiency in two adult sisters

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073716

Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073716

Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073716

Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1073716

Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype

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

Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes

1 reference

12 December 2020

Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult sandhoff disease) in French Canadians

1 reference

12 December 2020

N-acetyl-beta-hexosaminidase beta locus defect and juvenile motor neuron disease: a case study

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.59.5.520

1 reference

29 July 2017

1 reference

29 July 2017

1 reference