Literature DB >> 4053401

Mevalonic aciduria: an inborn error of cholesterol biosynthesis?

R Berger, G P Smit, H Schierbeek, K Bijsterveld, R le Coultre.   

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Year:  1985        PMID： 4053401     DOI： 10.1016/0009-8981(85)90195-0

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  16 in total

Review 1.  The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.

Authors:  Luca Cantarini; Antonio Vitale; Orso Maria Lucherini; Caterina De Clemente; Francesco Caso; Luisa Costa; Giacomo Emmi; Elena Silvestri; Flora Magnotti; Maria Cristina Maggio; Eugenia Prinzi; Giuseppe Lopalco; Bruno Frediani; Rolando Cimaz; Mauro Galeazzi; Donato Rigante
Journal:  Clin Rheumatol       Date:  2014-06-24       Impact factor: 2.980

Review 2.  Disorders of cholesterol biosynthesis.

Authors:  P T Clayton
Journal:  Arch Dis Child       Date:  1998-02       Impact factor: 3.791

3.  Mevalonic aciduria: pathobiochemical effects of mevalonate kinase deficiency on cholesterol metabolism in intact fibroblasts.

Authors:  G Hoffmann; K M Gibson; W L Nyhan; L Sweetman
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

4.  Hyper-IgD and periodic fever syndrome (HIDS) due to compound heterozygosity for G336S and V377I in a 44-year-old patient with a 27-year history of fever.

Authors:  Stefan Schlabe; Carolynne Schwarze-Zander; Peter Lohse; Jürgen Kurt Rockstroh
Journal:  BMJ Case Rep       Date:  2016-11-29

5.  A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis.

Authors:  J B de Klerk; M Duran; L Dorland; H A Brouwers; L Bruinvis; D Ketting
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

6.  Molecular cloning of mevalonate kinase and regulation of its mRNA levels in rat liver.

Authors:  R D Tanaka; L Y Lee; B L Schafer; V J Kratunis; W A Mohler; G W Robinson; S T Mosley
Journal:  Proc Natl Acad Sci U S A       Date:  1990-04       Impact factor: 11.205

7.  Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat.

Authors:  Masayuki Mori; Guixin Li; Ikuro Abe; Jun Nakayama; Zhanjun Guo; Jinko Sawashita; Tohru Ugawa; Shoko Nishizono; Tadao Serikawa; Keiichi Higuchi; Seigo Shumiya
Journal:  J Clin Invest       Date:  2006-01-26       Impact factor: 14.808

Review 8.  Isoprenoids: remarkable diversity of form and function.

Authors:  Sarah A Holstein; Raymond J Hohl
Journal:  Lipids       Date:  2004-04       Impact factor: 1.880

9.  Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).

Authors:  Jerold Jeyaratnam; Nienke M Ter Haar; Monique G M de Sain-van der Velden; Hans R Waterham; Mariëlle E van Gijn; Joost Frenkel
Journal:  JIMD Rep       Date:  2015-09-27

10.  Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria.

Authors:  K M Gibson; G Hoffmann; W L Nyhan; L Sweetman; R Berger; R le Coultre; G P Smit
Journal:  Eur J Pediatr       Date:  1988-12       Impact factor: 3.183
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