Literature DB >> 23921621

Mevalonate kinase deficiency nomenclature.

Monique Stoffels1, Jos W M van der Meer, Anna Simon.   

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Year:  2013        PMID： 23921621     DOI： 10.1007/s00296-013-2842-9

Source DB:  PubMed          Journal:  Rheumatol Int        ISSN： 0172-8172            Impact factor:   2.631


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  8 in total

1.  "Hyper-IgD syndrome" or "mevalonate kinase deficiency": an old syndrome needing a new name?

Authors:  Fulvio Celsi; Alberto Tommasini; Sergio Crovella
Journal:  Rheumatol Int       Date:  2013-02-15       Impact factor: 2.631

2.  Hyperimmunoglobulinaemia D and periodic fever: a new syndrome.

Authors:  J W van der Meer; J M Vossen; J Radl; J A van Nieuwkoop; C J Meyer; S Lobatto; R van Furth
Journal:  Lancet       Date:  1984-05-19       Impact factor: 79.321

Review 3.  Hyper-IgD syndrome or mevalonate kinase deficiency.

Authors:  Monique Stoffels; Anna Simon
Journal:  Curr Opin Rheumatol       Date:  2011-09       Impact factor: 5.006

Review 4.  Mevalonate kinase deficiency and Dutch type periodic fever.

Authors:  J Frenkel; S M Houten; H R Waterham; R J Wanders; G T Rijkers; J L Kimpen; R Duran; B T Poll-The; W Kuis
Journal:  Clin Exp Rheumatol       Date:  2000 Jul-Aug       Impact factor: 4.473

Review 5.  Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.

Authors:  Isabelle Touitou
Journal:  J Med Genet       Date:  2013-03-27       Impact factor: 6.318

6.  Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.

Authors:  Sheng-Quan Zhang; Tao Jiang; Min Li; Xin Zhang; Yun-Qing Ren; Sheng-Cai Wei; Liang-Dan Sun; Hui Cheng; Yang Li; Xian-Yong Yin; Zheng-Mao Hu; Zhen-Ying Wang; Yuan Liu; Bi-Rong Guo; Hua-Yang Tang; Xian-Fa Tang; Yan-Tao Ding; Jian-Bo Wang; Ping Li; Bao-Yu Wu; Wen Wang; Xiang-Feng Yuan; Jun-Sheng Hou; Wei-Wei Ha; Wen-Ju Wang; Yu-Juan Zhai; Jing Wang; Fang-Fang Qian; Fu-Sheng Zhou; Gang Chen; Xian-Bo Zuo; Xiao-Dong Zheng; Yu-Jun Sheng; Jin-Ping Gao; Bo Liang; Pan Li; Jun Zhu; Feng-Li Xiao; Pei-Guang Wang; Yong Cui; Hui Li; Sheng-Xiu Liu; Min Gao; Xing Fan; Song-Ke Shen; Ming Zeng; Guang-Qing Sun; Yu Xu; Jing-Chu Hu; Ting-Ting He; Ying-Rui Li; Huan-Ming Yang; Jian Wang; Zhong-Yi Yu; Hui-Feng Zhang; Xin Hu; Ke Yang; Jie Wang; Shi-Xiang Zhao; You-Wen Zhou; Jian-Jun Liu; Wei-Dong Du; Li Zhang; Kun Xia; Sen Yang; Jun Wang; Xue-Jun Zhang
Journal:  Nat Genet       Date:  2012-09-16       Impact factor: 38.330

7.  Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

Authors:  Anna M Siemiatkowska; L Ingeborgh van den Born; P Martin van Hagen; Monique Stoffels; Kornelia Neveling; Arjen Henkes; Mieke Kipping-Geertsema; Lies H Hoefsloot; Carel B Hoyng; Anna Simon; Anneke I den Hollander; Frans P M Cremers; Rob W J Collin
Journal:  Ophthalmology       Date:  2013-09-29       Impact factor: 12.079

8.  Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

Authors:  A Simon; H P H Kremer; R A Wevers; H Scheffer; J G De Jong; J W M Van Der Meer; J P H Drenth
Journal:  Neurology       Date:  2004-03-23       Impact factor: 9.910
  8 in total
  1 in total

Review 1.  To Extinguish the Fire from Outside the Cell or to Shutdown the Gas Valve Inside? Novel Trends in Anti-Inflammatory Therapies.

Authors:  Annalisa Marcuzzi; Elisa Piscianz; Erica Valencic; Lorenzo Monasta; Liza Vecchi Brumatti; Alberto Tommasini
Journal:  Int J Mol Sci       Date:  2015-09-07       Impact factor: 5.923
  1 in total

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