Tyrosinemia type III in an asymptomatic girl
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چکیده
منابع مشابه
Tyrosinemia type III in an asymptomatic girl
Tyrosinemia type 3 (HT3) is a rare inborn error of tyrosine metabolism caused by mutations in the HPD gene encoding 4-hydroxyphenyl-pyruvate dioxygenase, which is transmitted in an autosomal recessive trait. The disorder is characterized by tyrosine accumulation in body fluids and massive excretion of tyrosine derivatives into urine (www.orpha.net). Since it is the least frequent form of tyrosi...
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Address for Correspondence: Dr. Hakim Rahmoune, Department of Pediatrics, Setif University Hospital, Setif, Algeria Phone: +213-550123279 e-mail: [email protected] Received: 7 August 2016 Accepted: 16 January 2017 • DOI: 10.4274/balkanmedj.2016.1209 Available at www.balkanmedicaljournal.org Cite this article as: Rahmoune H, Boutrid N, Amrane M, Bioud B. Comment on Pancreatitis in Type 1 T...
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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: Molecular Genetics and Metabolism Reports
سال: 2015
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2015.10.004