(Q34524800)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12091494%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases (English)

1 reference

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10 November 2019

1

1 reference

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10 November 2019

Jana Ledvinová

2

1 reference

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10 November 2019

Robert Dobrovolny

3

1 reference

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10 November 2019

4

Henk D Bakker

1 reference

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10 November 2019

5

Robert J Desnick

1 reference

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10 November 2019

author name string

Otto P van Diggelen

6

1 reference

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10 November 2019

Jan G N de Jong

7

1 reference

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10 November 2019

Tamotsu Kanzaki

8

1 reference

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10 November 2019

Amparo Chabas

9

1 reference

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10 November 2019

Irene Maire

10

1 reference

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10 November 2019

Ernst Conzelmann

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12091494%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Detlev Schindler

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12091494%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

publication date

1 July 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12091494%20AND%20SRC:MED&resulttype=core&format=json

Journal of Lipid Research

10 November 2019

published in

1 reference

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10 November 2019

volume

43

1 reference

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10 November 2019

page(s)

1096-1104

1 reference

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10 November 2019

issue

7

1 reference

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Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Incorporation and metabolism of ganglioside GM2 in skin fibroblasts from normal and GM2 gangliosidosis subjects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Tissue distribution of histo-blood group antigens

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

The identity of α-galactosidase B from human liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Human alpha-N-acetylgalactosaminidase: site occupancy and structure of N-linked oligosaccharides

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

The activator of cerebroside-sulphatase. A model of the activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Identity of the activator proteins for the enzymatic hydrolysis of sulfatide, ganglioside GM1, and globotriaosylceramide

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

New insights in cardiac structural changes in patients with Fabry’s disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Partial enzyme deficiencies: residual activities and the development of neurological disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

The identification of alpha-galactosidase B from human liver as an alpha-N-acetylgalactosaminidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200

Activator proteins for lysosomal glycolipid hydrolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.M100423-JLR200