Potential relationship between genotype and clinical outcome in propionic acidaemia patients

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

Analytical Biochemistry · 1987 · 63.2K citations

Nucleic Acid Chemistry, Engineering, Natural Sciences +7

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

Piotr Chomczyński, Nicoletta Sacchi · Analytical Biochemistry · 1987 · 46.8K citations

Engineering, Natural Sciences, Rna Isolation +7

Propionic acidaemia: clinical, biochemical and therapeutic aspects

W. Lehnert, Wolfgang Sperl, Terttu Suormala et al. · European Journal of Pediatrics · 1994 · 121 citations

Electrolyte Disorder, Propionic Acidaemia, Medicine +8

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria

Niels Gregersen · Human Molecular Genetics · 1998 · 119 citations · Full text

Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.

R A Gravel, Kei Fong Lam, Katherine J. Scully et al. · PubMed · 1977 · 105 citations