tiglylglycine
National Institutes of Health
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2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (2M3HBD) deficiency (HSD10 disease) is a rare inborn error of metabolism, and <30…
Cesium-137 is a fission product of uranium and plutonium in nuclear reactors and is released in large quantities during nuclear…
ABSTRACT: Cultured fibroblasts from 13 patients with organic aciduria suggesting 3-oxothiolase deficiency were studied by…
Abstract. A new case of assumed β‐ketothiolase deficiency, excreting 2‐methyl‐3‐hydroxybutyrate and tiglylglycine is described in…
A 2-month-old infant presented with vomiting, lethargy and pancytopaenia. She was found to have propionic acidaemia, and the…