Fatal cardiomyopathy associated with 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

Techniques in diagnostic human biochemical genetics

Emmanuel Shapira · Europe PMC (PubMed Central) · 1991 · 351 citations

Genetic Analysis, Genetic Testing, Molecular Diagnostic Techniques +7

3‐hydroxy‐3‐methylglutaryl‐coenzyme a lyase deficiency: Report of five new patients

K. Michael Gibson, Judith Breuer, K Kaiser et al. · Journal of Inherited Metabolic Disease · 1986 · 53 citations

3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method

Ronald J. A. Wanders, R. B. H. Schutgens, Paul H.M. Zoeters · Clinica Chimica Acta · 1988 · 35 citations

Biochemistry, 3-Hydroxy-3-methylglutaric Aciduria Patients, Medicine +8

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases

K. Michael Gibson, C F Lee, Vafa Kamali et al. · Clinical Chemistry · 1990 · 22 citations · Full text