(Q28207741)

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Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease

scientific article published on January 1, 1992

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Europe PubMed Central

title

Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease (English)

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main subject

aspartylglucosaminuria

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E. Ikonen

1

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stated in

Europe PubMed Central

PubMed publication ID

1301945

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301945

retrieved

10 September 2022

L. Peltonen

series ordinal

2

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stated in

Europe PubMed Central

PubMed publication ID

1301945

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1301945

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10 September 2022

language of work or name

English

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publication date

1992

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published in

Human Mutation

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volume

1

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issue

5

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page(s)

361-5

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cites work

Human aspartylglucosaminidase. A biochemical and immunocytochemical characterization of the enzyme in normal and aspartylglucosaminuria fibroblasts

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010503

retrieved

21 January 2018

Human leucocyte aspartylglucosaminidase. Evidence for two different subunits in a more complex native structure

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010503

retrieved

21 January 2018

The glycoasparagines in urine of a patient with aspartylglycosaminuria

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010503

retrieved

21 January 2018

Comparison of liver glycosylasparaginases from six vertebrates

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010503

retrieved

21 January 2018

Aspartylglucosaminuria: Deficiency of aspartylglucosaminidase in cultured fibroblasts of patients and their heterozygous parents

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010503

retrieved

7 January 2021

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inferred from DOI database lookup

Detection of heterozygotes for aspartylglucosaminuria (AGU) in cultured fibroblasts

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010503

retrieved

7 January 2021

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Enzymatic Diagnosis and Carrier Detection of Aspartylglucosaminuria Using Blood Samples

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010503

retrieved

7 January 2021

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Spectrum of mutations in aspartylglucosaminuria

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https://api.crossref.org/works/10.1002%2FHUMU.1380010503

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7 January 2021

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In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010503

retrieved

7 January 2021

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inferred from DOI database lookup

Enzymatic cleavage of glycopeptides

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010503

retrieved

7 January 2021

based on heuristic

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Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect.

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010503

retrieved

7 January 2021

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A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

1 reference

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reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010503

retrieved

7 January 2021

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Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FHUMU.1380010503

retrieved

7 January 2021

based on heuristic

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Identifiers

DOI

10.1002/HUMU.1380010503

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PubMed publication ID

1301945

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(Q28207741)

Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease

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