(Q73786770)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11313741%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy? (English)

1 reference

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6 November 2019

author name string

Bakker HD

1

1 reference

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6 November 2019

de Sonnaville ML

2

1 reference

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6 November 2019

Vreken P

3

1 reference

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6 November 2019

Abeling NG

4

1 reference

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6 November 2019

Groener JE

5

1 reference

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6 November 2019

Keulemans JL

6

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6 November 2019

van Diggelen OP

7

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6 November 2019

publication date

1 February 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11313741%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

6 November 2019

published in

1 reference

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6 November 2019

volume

9

1 reference

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6 November 2019

issue

2

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6 November 2019

page(s)

91-96

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200598

6 November 2019

exact match

0 references

cites work

Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

Histopathologic and ultrastructural studies of angiokeratoma corporis diffusum in Kanzaki disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

Isolation and structural characterization of sialic-acid-containing glycopeptides of the O-glycosidic type from the urine of two patients with an hereditary deficiency in alpha-N-acetylgalactosaminidase activity.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

Improved selectivity of urinary oligosaccharide screening using two one-dimensional TLC systems

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

Human beta-mannosidase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

Molecular cloning of two species of cDNAs for human alpha-N-acetylgalactosaminidase and expression in mammalian cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200598

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200598

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11313741%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference