Hypertyrosinemia

ewborn screening has substantially changed the geneticmetabolic world and greatly expanded the concept of preventive medicine… Expand

We describe a patient with ultra-rare disease, alkaptonuria, who developed tyrosine keratopathy following nitisinone therapy of 2… Expand

Hepatocellular carcinoma (HCC) is a common form of cancer that arises from hepatocytes and whose risk may be affected by several… Expand

BACKGROUND Tyrosinemia type I is associated with an increased risk of liver cancer development. The formation of the pathogenic… Expand

Oculo-cutaneous tyrosinaemia type II is an autosomal recessive disease due to an abnormality of tyrosine metabolism, probably… Expand

CoQ transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There are very few reports… Expand

Liver cancer is an uncommon indication for liver transplantation in children. Between 1986 and 1995, five children with… Expand

Relatively high frequencies of some rare inherited disorders can be found in the Saguenay Region (Quebec). To understand this… Expand

A technique designed to measure quantitatively succinylacetone (4,6-dioxoheptanoic acid) is presented. It essentially involves… Expand

A patient is described with type I tyrosinemia characterized by urinary excretion of succinylacetone together with increased… Expand