MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency-Reference-Cited by-同舟云学术

MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency

Published:2017-12-12 Issue:1 Volume:38 Page:121-127
ISSN:0172-8172
Container-title:Rheumatology International
language:en
Short-container-title:Rheumatol Int

Author:

Mezzavilla Massimo,Moura Ronald Rodrigues,Celsi Fulvio,Tricarico Paola Maura,Crovella Sergio^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy,Rheumatology

Link

http://link.springer.com/article/10.1007/s00296-017-3890-3/fulltext.html

Reference26 articles.

1. Bader-Meunier B, Florkin B, Sibilia J et al (2011) Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics 128:e152–e159

2. Haas D, Hoffmann GF (2006) Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis 1:1

3. De Pieri C, Taddio A, Insalaco A et al (2014) Different presentations of mevalonate kinase deficiency: a case series. Clin Exp Rheumatol 33:437–442

4. Browne C, Timson DJ (2015) In silico prediction of the effects of mutations in the human mevalonate kinase gene: towards a predictive framework for mevalonate kinase deficiency. Ann Human Genet 79:451–459

5. Stabile A, Compagnone A, Napodano S, Raffaele CG, Patti M, Rigante D (2012) Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level. Rheumatol Int 33:3039–3042

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Prolonged treatment with mevalonolactone induces oxidative stress response with reactive oxygen species production, mitochondrial depolarization and inflammation in human glioblastoma U-87 MG cells;Neurochemistry International;2018-11