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Progress of diagnosis and therapy in tyrosinemia type Ⅰ / 国际儿科学杂志
Article in Zh | WPRIM | ID: wpr-426481
Responsible library: WPRO
ABSTRACT
Tyrosinemia type Ⅰ is an autosomal recessive disease characterized by severe liver and kidney damage.Patients with this disease may develop acute liver failure and have a high risk of hepatocellular carcinoma.The diagnosis is confirmed by elevated tyrosine serum levels and large amounts of succinylacetone in blood and urine.Nitisinone has been significantly effective in treatment of the disease,while dietary therapy with restriction of phenylalanine and tyrosine is necessary at the same time.Liver transplantation has been performed in a few patients and has a positive effect.Experimental work in model mice has provided some promise for gene therapy to this disorder.
Key words
Full text: 1 Index: WPRIM Type of study: Diagnostic_studies Language: Zh Journal: International Journal of Pediatrics Year: 2012 Type: Article
Full text: 1 Index: WPRIM Type of study: Diagnostic_studies Language: Zh Journal: International Journal of Pediatrics Year: 2012 Type: Article