(Q61775115)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21559944%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

title

A complete deficiency of Hyaluronoglucosaminidase 1 (HYAL1) presenting as familial juvenile idiopathic arthritis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21559944%20AND%20SRC:MED&resulttype=core&format=json

juvenile rheumatoid arthritis

31 January 2020

main subject

1 reference

3

1 reference

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31 January 2020

Barbara Triggs-Raine

7

1 reference

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31 January 2020

author name string

Lisa Imundo

1

1 reference

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31 January 2020

Marc Brown

4

1 reference

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31 January 2020

Giorgio Perino

5

1 reference

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31 January 2020

Lara Gushulak

6

1 reference

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31 January 2020

Charles A Leduc

2

1 reference

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31 January 2020

Wendy K Chung

8

1 reference

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31 January 2020

publication date

11 May 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21559944%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

31 January 2020

published in

1 reference

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31 January 2020

volume

34

1 reference

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31 January 2020

issue

5

1 reference

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31 January 2020

page(s)

1013-1022

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10545-011-9343-3

31 January 2020

exact match

0 references

cites work

Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever

1 reference

12 December 2020

Familial aggregation of juvenile idiopathic arthritis

1 reference

12 December 2020

HomozygosityMapper--an interactive approach to homozygosity mapping

1 reference

12 December 2020

GeneDistiller--distilling candidate genes from linkage intervals

1 reference

12 December 2020

Clinical and biochemical manifestations of hyaluronidase deficiency

1 reference

12 December 2020

A substrate-gel assay for hyaluronidase activity

1 reference

12 December 2020

Quantification of the familial contribution to juvenile idiopathic arthritis

1 reference

12 December 2020

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

12 December 2020

Magnitude of the genetic component in juvenile idiopathic arthritis

1 reference

12 December 2020

Prevalence of and annual ambulatory health care visits for pediatric arthritis and other rheumatologic conditions in the United States in 2001-2004.

1 reference

12 December 2020

Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX

1 reference

12 December 2020

Juvenile rheumatoid arthritis as a complex genetic trait

1 reference

12 December 2020

Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.

1 reference

12 December 2020

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

12 December 2020

HLA and susceptibility to juvenile idiopathic arthritis: a study of affected sibpairs in an isolated Finnish population.

1 reference

12 December 2020

Homozygosity mapping: one more tool in the clinical geneticist's toolbox

1 reference

12 December 2020

Genetics of juvenile idiopathic arthritis: an update

1 reference

12 December 2020