Natural history of infantile G(M2) gangliosidosis (Q28251348)

21 June 2017

title

Natural history of infantile G(M2) gangliosidosis (English)

1 reference

21 June 2017

Annette E Bley

1

1 reference

21 June 2017

Ourania A Giannikopoulos

2

1 reference

21 June 2017

Doug Hayden

3

1 reference

21 June 2017

Kim Kubilus

4

1 reference

21 June 2017

Cynthia J Tifft

5

1 reference

21 June 2017

Florian S Eichler

6

1 reference

21 June 2017

language of work or name

English

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publication date

24 October 2011

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21 June 2017

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21 June 2017

volume

128

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21 June 2017

issue

5

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21 June 2017

page(s)

e1233-41

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Screening and prevention in Tay-Sachs disease: origins, update, and impact

21 June 2017

cites work

1 reference

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20 March 2017

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Enzyme alterations and lipid storage in three variants of Tay-Sachs disease

20 March 2017

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Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases

20 March 2017

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Seven Cases of Amaurotic Idiocy (Tay-Sachs Disease)

29 September 2017

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REPORT OF TWO CASES OF AMAUROTIC FAMILY IDIOCY (TAY-SACHS' DISEASE).

29 September 2017

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

29 September 2017

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Effective gene therapy in an authentic model of Tay-Sachs-related diseases

29 September 2017

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Morphologic evolution of amaurotic family idiocy; the protracted phase of the disease

29 September 2017

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Amaurotic familial idiocy (Tay-Sachs disease) in non-Hebrew siblings

29 September 2017

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TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT AND ITS RELATION TO GARGOYLISM

29 September 2017

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The chemical structure of normal human brain and Tay-Sachs gangliosides

29 September 2017

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29 September 2017

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Prevalence of lysosomal storage disorders

29 September 2017

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Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon

29 September 2017

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Amaurotic familial idiocy: case reports of Tay-Sachs' disease in two siblings and a review of twenty cases from the Indian literature

29 September 2017

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A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease

29 September 2017

1 reference

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GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients

29 September 2017

1 reference

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Tay-Sachs disease in a Moroccan Jewish family: a possible new mutation

29 September 2017

1 reference

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Histological observation of the brain of Tay-Sachs disease with seizure and chronic DPH intoxication--report of an autopsy case

29 September 2017

1 reference

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Fine structure of cutaneous nerves in ganglioside storage disease

29 September 2017

1 reference

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[Tay-Sachs disease and the organ of hearing]

29 September 2017

1 reference

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The diagnosis of Tay-Sachs disease

2 June 2018

1 reference

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Generalized accumulation of neutral glycosphingolipids with G M2 ganglioside accumulation in the brain

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. Sandhoff's disease (variant of Tay-Sachs disease).

2 June 2018

1 reference

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An autopsy case of Tay-Sachs' disease.

2 June 2018

1 reference

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Ocular pathology of GM2 gangliosidosis--Type 2 (Sandhoff's disease).

2 June 2018

1 reference

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Cerebral and visceral glycolipids in a case of Tay-Sachs disease.

2 June 2018

1 reference

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Composition of gangliosides and neutral glycosphingolipids of brain in classical Tay-Sachs and Sandhoff disease: more lyso-GM2 in Sandhoff disease?

2 June 2018

1 reference

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Spinal ganglia and peripheral nerves from a patent with Tay-Sachs disease. Morphological and ganglioside studies

2 June 2018

1 reference

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MRI in the early stage of Tay-Sachs disease

2 June 2018

1 reference

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The pathology of Sandhoff's disease

2 June 2018

1 reference

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Mechanisms of distribution of mouse beta-galactosidase in the adult GM1-gangliosidosis brain

2 June 2018

1 reference

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Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

Tay Sachs disease: an autopsy case report.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

Electrophysiological analysis of a case of Tay-Sachs disease

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

Studies in Tay-Sachs disease. I. B. Clinical and pathologic descriptions

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

Tay-Sachs disease in two Sinhalese children.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

A new point mutation (G412 to A) at the last nucleotide of exon 3 of hexosaminidase α-subunit gene affects splicing

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

Biochemical and molecular characterization of mutant hexosaminidase A in a Turkish family.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

GM2 gangliosidosis variant B1 neuroradiological findings.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

GM2D gangliosidosis B1 variant in a boy of German/Hungarian descent.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

[Anatomo-clinical study of a case of Tay-Sachs disease]

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

The fine structure of cytoplasmic inclusions in brain and other visceral organs in sandhoff disease

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3208966

[Fatty degeneration of the neuraxon; anatoma-clinical considerations on an atypical form of familial amaurotic idiocy]

27 November 2018

1 reference

12 December 2020

Tay-Sachs' retina. Deficiency of acetyl hexosaminidase A

1 reference

12 December 2020

THE STARTLE RESPONSE AND SERUM ENZYME PROFILE IN EARLY DETECTION OF TAY-SACHS' DISEASE

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12 December 2020

EYE MOVEMENTS IN TAY-SACHS DISEASE

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12 December 2020

[Infantile amaurotic idiocy or Tay-Sachs disease; case report]

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12 December 2020

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12 December 2020

Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcript level

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12 December 2020

Evidence for the presence of beta-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique

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12 December 2020

Tay-Sachs disease: B1 variant

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12 December 2020

[Tay-Sachs' amaurotic idiocy]

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12 December 2020

Impaired sulphated glycosaminoglycan metabolism in a patient with GM-2 gangliosidosis (Tay-Sachs disease)

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12 December 2020

A case of infantile amaurotic family idiocy

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12 December 2020

[Anatomo-clinical examination of a case of infantile amaurotic idiocy (Tay-Sachs)]

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12 December 2020

Splenic and hepatic gangliosides in amaurotic idiocy of the Tay-Sachs type

1 reference

12 December 2020

The major mutation among Japanese patients with infantile Tay-Sachs disease: a G-to-T transversion at the acceptor site of intron 5 of the beta-hexosaminidase alpha gene

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12 December 2020

Amaurotic family idiocy: Tay-Sachs disease

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12 December 2020

Observations on the plasma lipoproteins in a case of Tay-Sachs Disease

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12 December 2020

Retinal amacrine cell involvement in Tay-Sachs disease

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12 December 2020

Infantile amaurotic familial idiocy (Tay-Sachs disease) in the Negro race

1 reference

12 December 2020

Peripheral intraaxonal storage in Tay-Sachs' disease (GM2-gangliosidosis type 1

1 reference

12 December 2020

Tay-Sachs disease: report of three cases in one family

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12 December 2020

WAREN TAY-SACHS DISEASE IN A CHINESE INFANT.

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12 December 2020

Identifiers

DOI

10.1542/PEDS.2011-0078

1 reference

21 June 2017

0 references

1 reference