학술논문
Enhancing newborn screening for tyrosinemia type I
Document Type
Academic Journal
Author
Source
Clinical Chemistry. April, 2008, Issue 4, p627, 3 p.
Subject
Language
English
ISSN
0009-9147
Abstract
Hepatorenal tyrosinemia, also known as tyrosinemia type I (Tyr-I) is an autosomal recessive inborn error of metabolism. The primary enzyme defect has been attributed to a deficiency of fumarylacetoacetase (EC [...]