Aspartylglucosaminuria among Palestinian Arabs (Q74031544)

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8 November 2019

title

Aspartylglucosaminuria among Palestinian Arabs (English)

1 reference

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8 November 2019

main subject

aspartylglucosaminuria

1 reference

J. Zlotogora

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9427148

1 December 2024

Z. Ben-Neriah

2

1 reference

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1 December 2024

B. Y. Abu-Libdeh

3

1 reference

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1 December 2024

V. Sury

4

1 reference

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1 December 2024

M. Zeigler

5

1 reference

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1 December 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9427148

1 December 2024

publication date

1 November 1997

1 reference

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8 November 2019

November 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9427148

full work available at URL

1 December 2024

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1023%2FA%3A1005371802085

1 reference

Crossref

DOI

10.1023/A:1005371802085

https://api.crossref.org/works/10.1023/A:1005371802085

https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1005371802085

1 December 2024

1 reference

Crossref

DOI

10.1023/A:1005371802085

https://api.crossref.org/works/10.1023/A:1005371802085

Journal of Inherited Metabolic Disease

1 December 2024

published in

1 reference

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8 November 2019

volume

20

1 reference

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8 November 2019

issue

6

1 reference

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8 November 2019

page(s)

799-802

1 reference

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Disease gene mapping in isolated human populations: the example of Finland

8 November 2019

cites work

1 reference

12 December 2020

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease

1 reference

12 December 2020

Ser72Pro active-site disease mutation in human lysosomal aspartylglucosaminidase: abnormal intracellular processing and evidence for extracellular activation

1 reference

12 December 2020

Aspartylglycosaminuria (AGU). Further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients

1 reference

12 December 2020

Oligosaccharides in urine of patients with glycoprotein storage diseases. I. Rapid detection by thin-layer chromatography

1 reference

12 December 2020

Aspartylglycosaminuria: an inborn error of glycoprotein catabolism

1 reference

12 December 2020

Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease

1 reference

12 December 2020

Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts

1 reference

12 December 2020

Eleven new cases of aspartylglucosaminuria

1 reference

12 December 2020