Literature DB >> 11486909

Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.

M Di Rocco1, U Caruso, H R Waterham, P Picco, A Loy, R J Wanders.   

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Year:  2001        PMID： 11486909     DOI： 10.1023/a:1010525206818

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.

Authors:  B T Poll-The; J Frenkel; S M Houten; W Kuis; M Duran; T J de Koning; L Dorland; M M de Barse; G J Romeijn; R J Wanders; H R Waterham
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

Authors:  S M Houten; W Kuis; M Duran; T J de Koning; A van Royen-Kerkhof; G J Romeijn; J Frenkel; L Dorland; M M de Barse; W A Huijbers; G T Rijkers; H R Waterham; R J Wanders; B T Poll-The
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

3.  Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

Authors:  J P Drenth; L Cuisset; G Grateau; C Vasseur; S D van de Velde-Visser; J G de Jong; J S Beckmann; J W van der Meer; M Delpech
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

4.  Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

Authors:  G F Hoffmann; C Charpentier; E Mayatepek; J Mancini; M Leichsenring; K M Gibson; P Divry; M Hrebicek; W Lehnert; K Sartor
Journal:  Pediatrics       Date:  1993-05       Impact factor: 7.124
  4 in total
  4 in total

1.  Periodic Illness Associated With Epstein-Barr Virus: A New Diagnosis After a 22-Year Follow-up.

Authors:  Lesia K Dropulic; Mir A Ali; Amanda K Ombrello; Jeffrey I Cohen
Journal:  Clin Infect Dis       Date:  2016-03-29       Impact factor: 9.079

Review 2.  Hyperimmunoglobulin D syndrome in childhood.

Authors:  Jeroen C H van der Hilst; Joost Frenkel
Journal:  Curr Rheumatol Rep       Date:  2010-04       Impact factor: 4.592

3.  Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.

Authors:  Cécile-Audrey Durel; Achille Aouba; Boris Bienvenu; Samuel Deshayes; Brigitte Coppéré; Bruno Gombert; Cécile Acquaviva-Bourdain; Eric Hachulla; Frédéric Lecomte; Isabelle Touitou; Jacques Ninet; Jean-Baptiste Philit; Laurent Messer; Marc Brouillard; Marie-Hélène Girard-Madoux; Michel Moutschen; Nadia Raison-Peyron; Pascal Hutin; Pierre Duffau; Pierre Trolliet; Pierre-Yves Hatron; Philippe Heudier; Ramiro Cevallos; Thierry Lequerré; Valentine Brousse; Vincent Lesire; Sylvain Audia; Delphine Maucort-Boulch; Laurence Cuisset; Arnaud Hot
Journal:  Medicine (Baltimore)       Date:  2016-03       Impact factor: 1.889

4.  Increased core body temperature exacerbates defective protein prenylation in mouse models of mevalonate kinase deficiency.

Authors:  Marcia A Munoz; Oliver P Skinner; Etienne Masle-Farquhar; Julie Jurczyluk; Ya Xiao; Emma K Fletcher; Esther Kristianto; Mark P Hodson; Seán I O'Donoghue; Sandeep Kaur; Robert Brink; David G Zahra; Elissa K Deenick; Kristen A Perry; Avril Ab Robertson; Sam Mehr; Pravin Hissaria; Catharina M Mulders-Manders; Anna Simon; Michael J Rogers
Journal:  J Clin Invest       Date:  2022-10-03       Impact factor: 19.456
  4 in total

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