Type 1 tyrosinemia in Finland: a nationwide study
نویسندگان
چکیده
منابع مشابه
Type 1 Tyrosinemia with Hypophosphatemic Rickets; a Case Report
Background: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (FAH) enzyme, the final enzyme in the tyrosine degradation pathway. The disease typically manifests as early onset type in early infancy with acute hepatic crisis with hepatomegaly and bleeding te...
متن کاملComment on Pancreatitis in Type 1 Tyrosinemia
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...
متن کاملGoldenhar syndrome and hereditary tyrosinemia type 1.
We report a case of Goldenhar syndrome and hereditary tyrosinemia type 1 (HTT1), to our knowledge an association not previously described. This case further increases the diversity of observations and clinical descriptions of patients with this complex syndrome. We discuss pathogenetic aspects, and demonstrate further evidence of the effectiveness of 2-(2-nitro-4-trifluoromethyl benzoyl)-1,3-cy...
متن کاملtype 1 tyrosinemia with hypophosphatemic rickets; a case report
background: tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. it is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (fah) enzyme, the final enzyme in the tyrosine degradation pathway. the disease typically manifests as early onset type in early infancy with acute hepatic crisis with hepatomegaly and bleeding te...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2020
ISSN: 1750-1172
DOI: 10.1186/s13023-020-01547-w