منابع مشابه
Goldenhar 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 کاملLiver Transplant for Children With Hepatocellular Carcinoma and Hereditary Tyrosinemia Type 1.
OBJECTIVES This study sought to determine the prevalence of hepatocellular carcinoma and other premalignant lesions in children with hereditary tyrosinemia type 1 who had undergone an orthotopic liver transplant at the Shiraz Transplant Center, in Shiraz, Iran. MATERIALS AND METHODS Between September 2006, and June 2011, thirty-six patients with hereditary tyrosinemia type 1 received a liver ...
متن کاملHereditary Tyrosinemia Type I, Presentation in a Two Month Old
Tyrosinemia is a metabolic disorder which manifests as increased levels of tyrosine in the blood. Hereditary Tyrosinemia Type I is one of the many causes of Tyrosinemia. It is due to the deficiency of the enzyme fumaryl acetoacetate hydrolase which leads to the rise in the serum levels of fumaryl acetoacetate and presents with a variety of different signs and symptoms such as neurological disor...
متن کاملClinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)
Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product of agrochemistry. It blocks the catabolic pathway of tyrosine, thereby leading to a reduction in the accumulation of toxic metabolites in HT-1. It has to be combined with a low-protein diet supplemented with amino acid mixtures devoid of t...
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...
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ژورنال
عنوان ژورنال: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)
سال: 2019
ISSN: 2500-2228,1027-4065
DOI: 10.21508/1027-4065-2019-64-5-69-83