(Q33674126)

28 July 2017

Aspartylglucosaminuria in northern Norway: a molecular and genealogical study (English)

1 reference

28 July 2017

aspartylglucosaminuria

1 reference

Tollersrud OK

1

1 reference

28 July 2017

Nilssen O

series ordinal

2

1 reference

28 July 2017

Tranebjaerg L

series ordinal

3

1 reference

28 July 2017

Borud O

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 May 1994

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

31

1 reference

28 July 2017

5

1 reference

28 July 2017

360-363

1 reference

Aspartylglycosaminuria. Analysis of thirty-four patients

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049865

Lysosomal degradation of Asn-linked glycoproteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049865

Cloning and sequence analysis of a cDNA for human glycosylasparaginase. A single gene encodes the subunits of this lysosomal amidase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049865

Population studies in northern Sweden. XVII. Estimates of Finnish and Saamish influence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049865

Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049865

Genomic structure of human lysosomal glycosylasparaginase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049865

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049865

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049865

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049865

Letter: Aspartylglycosaminuria in Northern Norway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049865

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049865

Studies on enzymes acting on glycopeptides

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8064811

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A simple and rapid PCR based method for AGU(Fin) determination

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8064811

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.31.5.360

1 reference

28 July 2017

1 reference

28 July 2017

1 reference