Discovery of Hereditary Tyrosinemia in Saguenay- Lac St-Jean.
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DOI: 10.1007/978-3-319-55780-9_1
Abstract: Given the interest of many people and families directly or indirectly affected by hereditary tyrosinemia (HT1), I have tried to give my view on the history of the disease from 1965 to 2015 (Fig. 1.1). read more here.
Keywords: tyrosinemia saguenay; lac jean; tyrosinemia; discovery hereditary ... See more keywords
Live donor liver transplantation for type 1 tyrosinemia: An analysis of 15 patients
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DOI: 10.1111/petr.13498
Abstract: Type 1 tyrosinemia is a rare metabolic disorder of the tyrosine degradation pathway. Due to the rarity of the disease, the best evidence literature offers is limited to guidelines based on expert opinions and optimal… read more here.
Keywords: liver; type tyrosinemia; live donor; transplantation ... See more keywords
Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screening era
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DOI: 10.4254/wjh.v9.i9.487
Abstract: Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma… read more here.
Keywords: hepatocellular carcinoma; case; tyrosinemia; newborn screening ... See more keywords