(Q74485812)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562328%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562328%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

A Hara

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562328%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

E Uyama

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562328%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

M Uchino

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562328%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

M Shimmoto

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562328%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

K Utsumi

5

1 reference

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11 November 2019

K Itoh

6

1 reference

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11 November 2019

R Kase

7

1 reference

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11 November 2019

M Naito

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562328%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

E Sugiyama

9

1 reference

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11 November 2019

T Taketomi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562328%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

K Sukegawa

11

1 reference

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11 November 2019

H Sakuraba

12

1 reference

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11 November 2019

publication date

1 February 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562328%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

11 November 2019

published in

1 reference

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11 November 2019

volume

155

1 reference

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11 November 2019

issue

1

1 reference

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11 November 2019

page(s)

86-91

1 reference

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

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

Mutation analysis of a Sandhoff disease patient in the Maronite community in Cyprus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

MRI in a case of Sandhoff's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

GM-2 gangliosidosis (Sandhoff's disease): two year follow-up by MRI.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

An improved thin-layer chromatographic method for urinary oligosaccharide screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

Enzymatic diagnosis of sphingolipidoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

Abnormal excretion of urinary phospholipids and sulfatide in patients with mitochondrial encephalomyopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2897%2900299-2

10.1016/S0022-510X(97)00299-2

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9562328%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference