Mevalonic Aciduria

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1991 Jan 1

PMID 1653382

Citations 3

Authors

V Kozich

K M Gibson

J Zeman

J Nemecek

G F Hoffman

F Pehal

J Hyanek

A Grosmanova

P Verner

Affiliations

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Citing Articles

Mevalonic Aciduria in a Pediatric Patient: A Case Report and Literature Review of Neuroimaging Findings.

Esmeraldo M, Prates I, Lucato L, Barbosa Junior A Cureus. 2024; 16(7):e65209.

PMID: 39176373 PMC: 11340854. DOI: 10.7759/cureus.65209.

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

Hinson D, Ross R, Krisans S, Shaw J, Kozich V, Rolland M Am J Hum Genet. 1999; 65(2):327-35.

PMID: 10417275 PMC: 1377931. DOI: 10.1086/302489.

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

Hoffmann G, Brendel S, Scharfschwerdt S, Shin Y, Speidel I, Gibson K J Inherit Metab Dis. 1992; 15(5):738-46.

PMID: 1331607 DOI: 10.1007/BF01800016.

References

Gibson K, Hoffmann G, Nyhan W, Sweetman L, Berger R, Le Coultre R . Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. Eur J Pediatr. 1988; 148(3):250-2. DOI: 10.1007/BF00441413. View

Hoffmann G, Gibson K, BRANDT I, Bader P, Wappner R, Sweetman L . Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med. 1986; 314(25):1610-4. DOI: 10.1056/NEJM198606193142504. View

De Klerk J, Duran M, Dorland L, Brouwers H, Bruinvis L, Ketting D . A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis. J Inherit Metab Dis. 1988; 11 Suppl 2:233-6. DOI: 10.1007/BF01804244. View

Tanaka K, Hine D, Lynn T, Lowe T . Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias. Clin Chem. 1980; 26(13):1847-53. View