Literature DB >> 23412692

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

Fulvio Celsi1, Alberto Tommasini, Sergio Crovella.   

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Year:  2013        PMID： 23412692     DOI： 10.1007/s00296-013-2702-7

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


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  4 in total

1.  Mevalonate kinase genotype in children with recurrent fevers and high serum IgD level.

Authors:  Achille Stabile; Adele Compagnone; Salvatore Napodano; Carmela Gerarda Luana Raffaele; Maria Patti; Donato Rigante
Journal:  Rheumatol Int       Date:  2012-12-13       Impact factor: 2.631

2.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

3.  Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome.

Authors:  W Ammouri; L Cuisset; S Rouaghe; M-O Rolland; M Delpech; G Grateau; N Ravet
Journal:  Rheumatology (Oxford)       Date:  2007-09-05       Impact factor: 7.580

4.  Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

Authors:  Jeroen C H van der Hilst; Evelien J Bodar; Karyl S Barron; Joost Frenkel; Joost P H Drenth; Jos W M van der Meer; Anna Simon
Journal:  Medicine (Baltimore)       Date:  2008-11       Impact factor: 1.889
  4 in total
  2 in total

1.  Mevalonate kinase deficiency nomenclature.

Authors:  Monique Stoffels; Jos W M van der Meer; Anna Simon
Journal:  Rheumatol Int       Date:  2013-08-07       Impact factor: 2.631

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

Authors:  Massimo Mezzavilla; Ronald Rodrigues Moura; Fulvio Celsi; Paola Maura Tricarico; Sergio Crovella
Journal:  Rheumatol Int       Date:  2017-12-12       Impact factor: 2.631
  2 in total

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