Literature DB >> 1653382

Mevalonic aciduria.

V Kozich1, K M Gibson, J Zeman, J Nĕmecek, G F Hoffman, F Pehal, J Hyánek, A Grosmanová, P Verner.   

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Year:  1991        PMID： 1653382     DOI： 10.1007/bf01800602

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


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  4 in total

1.  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

2.  Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.

Authors:  G Hoffmann; K M Gibson; I K Brandt; P I Bader; R S Wappner; L Sweetman
Journal:  N Engl J Med       Date:  1986-06-19       Impact factor: 91.245

3.  Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias.

Authors:  K Tanaka; A West-Dull; D G Hine; T B Lynn; T Lowe
Journal:  Clin Chem       Date:  1980-12       Impact factor: 8.327

4.  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
  4 in total
  2 in total

1.  Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

Authors:  D D Hinson; R M Ross; S Krisans; J L Shaw; V Kozich; M O Rolland; P Divry; J Mancini; G F Hoffmann; K M Gibson
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  Mevalonate kinase assay using DEAE-cellulose column chromatography for first-trimester prenatal diagnosis and complementation analysis in mevalonic aciduria.

Authors:  G F Hoffmann; S U Brendel; S R Scharfschwerdt; Y S Shin; I M Speidel; K M Gibson
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
  2 in total

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