Overgrowth of oral mucosa and facial skin, a novel feature of aspartylglucosaminuria (Q35432381)

8 August 2017

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

1 reference

8 August 2017

aspartylglucosaminuria

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Arvio P

1

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8 August 2017

Arvio M

2

1 reference

8 August 2017

Kero M

3

1 reference

8 August 2017

Pirinen S

4

1 reference

8 August 2017

Lukinmaa PL

5

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8 August 2017

language of work or name

English

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publication date

1 May 1999

1 reference

Journal of Medical Genetics

8 August 2017

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8 August 2017

36

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8 August 2017

398-404

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8 August 2017

5

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Chronic arthritis in patients with aspartylglucosaminuria.

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Functional analyses of active site residues of human lysosomal aspartylglucosaminidase: implications for catalytic mechanism and autocatalytic activation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Deletion of the C-terminal end of aspartylglucosaminidase resulting in a lysosomal accumulation disease: evidence for a unique genomic rearrangement

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Expression of aspartylglucosaminidase in human tissues from normal individuals and aspartylglucosaminuria patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Changes in extracellular matrix macromolecules in human gingiva after treatment with drugs inducing gingival overgrowth.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

A topographical classification of the oral mucosa suitable for electronic data processing. Its application to 560 leukoplakias

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

An epidemiological study of rosacea.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Aspartylglycosaminuria in a non-Finnish patient caused by a donor splice mutation in the glycoasparaginase gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Spectrum of mutations in aspartylglucosaminuria

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosaminuria

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Characteristic dental arches and occlusion in patients with aspartylglucosaminuria.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734365

Impaired oral health in patients with aspartylglucosaminuria

26 September 2018

1 reference

12 December 2020

Abnormal collagen fibrils in aspartylglycosaminuria. Altered dermal ultrastructure in a glycoprotein storage disorder

1 reference

12 December 2020

Oral fibromatosis in tuberous sclerosis

1 reference

12 December 2020

Early clinical symptoms and incidence of aspartylglucosaminuria in Finland

1 reference

12 December 2020

Characterization of a point mutation in aspartylglucosaminidase gene: evidence for a readthrough of a translational stop codon

1 reference

12 December 2020

The cutaneous features of tuberous sclerosis: a population study

1 reference

12 December 2020

Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation

1 reference

12 December 2020

Metabolism of collagen in aspartylglycosaminuria: decreased synthesis by cultured fibroblasts

1 reference

12 December 2020

Identifiers

PMCID

1734365

1 reference

8 August 2017

1 reference