Literature DB >> 14711867

Novel genotype of mevalonic aciduria with fatalities in premature siblings.

P Raupp1, E Varady, M Duran, R J A Wanders, H R Waterham, S M Houten.   

Abstract

Mevalonic aciduria is described in two very low birthweight siblings with unspecific clinical signs and recurrent septicaemia. Both died within the first 2 months of life. DNA analysis showed a novel mutation in the gene encoding mevalonate kinase.

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Year:  2004        PMID： 14711867      PMCID： PMC1721642     

Source DB:  PubMed          Journal:  Arch Dis Child Fetal Neonatal Ed        ISSN： 1359-2998            Impact factor:   5.747


  3 in total

1.  11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism.

Authors:  Grant S Schulert; Kevin Bove; Richard McMasters; Kathleen Campbell; Nancy Leslie; Alexei A Grom
Journal:  Arthritis Care Res (Hoboken)       Date:  2015-08       Impact factor: 4.794

Review 2.  Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.

Authors:  Dorothea Haas; Georg F Hoffmann
Journal:  Orphanet J Rare Dis       Date:  2006-04-26       Impact factor: 4.123

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
  3 in total

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