(Q28077247)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27906067%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

review article

1 reference

title

Aspartylglycosaminuria: a review (English)

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27906067%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

main subject

aspartylglucosaminuria

2 references

24 March 2019

22 April 2019

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27906067%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

author name string

Ilkka Mononen

series ordinal

2

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27906067%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

language of work or name

1 reference

1 December 2016

4 references

24 March 2019

22 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27906067%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

28 March 2020

published in

4 references

24 March 2019

22 April 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27906067%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

volume

11

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27906067%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

page(s)

162

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27906067%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

issue

1

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27906067%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

28 March 2020

copyright license

2 references

24 March 2019

on focus list of Wikimedia project

22 April 2019

copyright status

copyrighted

0 references

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13023-016-0544-6

0 references

cites work

Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Enzyme replacement therapy in a mouse model of aspartylglycosaminuria

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Localization of the disulfide bond involved in post-translational processing of glycosylasparaginase and disrupted by a mutation in the Finnish-type aspartylglycosaminuria

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

A protein catalytic framework with an N-terminal nucleophile is capable of self-activation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

High prevalence of aspartylglycosaminuria among school-age children in eastern Finland

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Structural basis of a point mutation that causes the genetic disease aspartylglucosaminuria

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

New strategies for the treatment of lysosomal storage diseases (review).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Progressive nature of aspartylglucosaminuria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Carriers of the aspartylglucosaminuria genetic mutation and chronic arthritis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Human leukocyte glycosylasparaginase: cell-to-cell transfer and properties in correction of aspartylglycosaminuria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Antenatal gene tests in low-risk pregnancies: molecular screening for aspartylglucosaminuria (AGU) and infantile neuronal ceroid lipofuscinosis (INCL) in Finland

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Progressive neurodegeneration in aspartylglycosaminuria mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Substrate specificity and reaction mechanism of human glycoasparaginase. The N-glycosidic linkage of various glycoasparagines is cleaved through a reaction mechanism similar to L-asparaginase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Letter: Aspartylglycosaminuria in Northern Norway

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Reduction in head size in patients with aspartylglucosaminuria

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Structural comparison of Ntn-hydrolases.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Chronic arthritis in patients with aspartylglucosaminuria.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Molecular background of the Finnish disease heritage

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

A mouse model for the human lysosomal disease aspartylglycosaminuria.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Purification, biochemistry and molecular cloning of an insect glycosylasparaginase from Spodoptera frugiperda

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Epileptic seizures in aspartylglucosaminuria: a common disorder.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Recombinant glycosylasparaginase and in vitro correction of aspartylglycosaminuria.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Laboratory detection of aspartylglycosaminuria

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Amniotic fluid glycoasparagines in fetal aspartylglycosaminuria

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Assay of aspartylglycosylaminase by high-performance liquid chromatography.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Glycosaparaginase from human leukocytes. Inactivation and covalent modification with diazo-oxonorvaline.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

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

2 June 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0544-6

Follow-up in patients with aspartylglucosaminuria. Part I. The course of intellectual functions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0544-6

Follow-up in patients with aspartylglucosaminuria. Part II. Adaptive skills.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0544-6

Dysmorphic facial features in aspartylglucosaminuria patients and carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0544-6

Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0544-6

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0544-6

Brain MRI findings in aspartylglucosaminuria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0544-6

Cloning and sequence analysis of a cDNA for human glycosylasparaginase

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0544-6

Phenotypic characterization of mice with targeted disruption of glycosylasparaginase gene: a mouse model for aspartylglycosaminuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0544-6

Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0544-6

Depletion of L-asparagine supply and apoptosis of leukemia cells induced by human glycosylasparaginase

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13023-016-0544-6

Characteristic dental arches and occlusion in patients with aspartylglucosaminuria.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5134220

Impaired oral health in patients with aspartylglucosaminuria

27 November 2018

1 reference

12 December 2020

Analysis of aspartylglucosamine at the picomole level by high-performance liquid chromatography

1 reference

12 December 2020

A fluorometric assay for glycosylasparaginase activity and detection of aspartylglycosaminuria

1 reference

12 December 2020

Prenatal diagnosis and fetal pathology of aspartylglucosaminuria

1 reference

12 December 2020

Allogeneic hematopoietic stem cell transplantation for inherited disorders: experience in a single center

1 reference

12 December 2020

Liquid-chromatographic detection of aspartylglycosaminuria

1 reference

12 December 2020

Bone marrow transplantation for aspartylglucosaminuria: follow-up study of transplanted and non-transplanted patients

1 reference

12 December 2020

Simple laboratory determination of excess oligosacchariduria

1 reference

12 December 2020

Neonatal detection of aspartylglycosaminuria

1 reference

12 December 2020

Excessive infantile growth and early pubertal growth spurt: typical features in patients with aspartylglycosaminuria

1 reference

12 December 2020

Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene

1 reference

12 December 2020

Prospects of carrier screening of aspartylglucosaminuria in Finland

1 reference

12 December 2020

Recombinant human glycosylasparaginase catalyzes hydrolysis of L-asparagine

1 reference

12 December 2020

DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices

1 reference

12 December 2020

Early clinical symptoms and incidence of aspartylglucosaminuria in Finland

1 reference

12 December 2020

First-trimester prenatal diagnosis of aspartylglucosaminuria

1 reference

12 December 2020

Enzymatic diagnosis of aspartylglycosaminuria by fluorometric assay of glycosylasparaginase in serum, plasma, or lymphocytes

1 reference

12 December 2020

Prevalence of phenylketonuria and some other metabolic disorders among mentally retarded patients in Finland

1 reference

12 December 2020

Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay

1 reference

12 December 2020

10.1186/S13023-016-0544-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27906067%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

28 March 2020

1038630653

0 references

Fatcat ID

release_xo6itbo6bzhv7euunzwfqqp67u

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xo6itbo6bzhv7euunzwfqqp67u

24 November 2022

mapped directly with Wikidata item

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27906067%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

2 references