Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection-Reference-Cited by-同舟云学术

Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection

Published:1991-05 Issue:3 Volume:198 Page:209-227
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Hoffmann Georg F.,Sweetman Lawrence,Bremer Hans J.,Hunneman Donald H.,Hyánek Josef,Kožich Victor,Lehnert Willy,Nyhan William L.,Speidel Ines,Trefz Friedrich K.,Gibson Kenneth M.

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference31 articles.

1. Mevalonic aciduria: a newly recognized inborn error of cholesterol biosynthesis;Sweetman;Pediatr Res,1985

2. Mevalonic aciduria: an inborn error of cholesterol biosynthesis?;Berger;Clin Chim Acta,1985

3. Mevalonic aciduria: an inborn error of cholesterol and nonsterol isoprene biosynthesis;Hoffmann;N Engl J Med,1986

4. Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria;Gibson;Eur J Pediatr,1988

5. A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis;de Klerk;J Inher Metab Dis,1988

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