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Article

Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria.

Journal of inherited metabolic disease - 1 Jan 2003

Pospísilová E, Mrázová L, Hrdá J, Martincová O, Zeman J

Abstract excerpt

Two methods, spectrophotometry and HPLC, were compared in the analyses of 3-hydroxy-3-methylglutaryl-CoA lyase (HL) activity in three unrelated Czech patients with 3-hydroxy-3-methylglutaric (HMG) aciduria and their family members. The HL activities in cultured fibroblasts and/or isolated lymphocytes of probands were below the detection limits of the methods used. Both methods were also suitable for recognition...

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Identifiers

PMID: 14518825
DOI: 10.1023/a:1025169210121

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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