Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico
نویسندگان
چکیده
منابع مشابه
Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico.
INTRODUCTION Hepatorenal tyrosinemia (HT1) is a treatable, inherited, metabolic disease characterized by progressive liver failure with pronounced coagulopathy. The aim of this study is to describe the clinical, biochemical, and histopathological findings in a group of Mexican HT1 patients and their outcome. MATERIAL AND METHODS Medical records of HT1 patients diagnosed between 1995 and 2011 ...
متن کاملClinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.
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15 صفحه اولEnhancing newborn screening for tyrosinemia type I.
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 3.7.1.2) (1 ). Tyr-I is usually asymptomatic in newborns, but if left untreated it affects liver, kidney, bone, and peripheral nerves; in its most severe form, affected infants may die fro...
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ژورنال
عنوان ژورنال: Annals of Hepatology
سال: 2014
ISSN: 1665-2681
DOI: 10.1016/s1665-2681(19)30890-7