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Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report. [PDF]
Škaričić A +7 more
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Pediatric Liver Transplantation Under Therapy With Cyclosporin-A and Steroids. [PDF]
Gartner, JC +5 more
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NTBC Treatment of the Pyomelanogenic Clinical Isolate PA1111 Inhibits Pigment Production and Increases Sensitivity to Oxidative Stress [PDF]
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Liver Transplantation in the World: Present Conditions of Liver Transplantation from Cadaver Donors in USA. [PDF]
Marino, Ignazio Roberto +1 more
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Liver transplantation for inborn errors of metabolism [PDF]
Koep, L, Putnam, CW, Starzl, TE
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The Pathophysiology and Treatment of Hereditary Tyrosinemia Type 1
Seminars in Liver Disease, 2001The topic of this review is hepatorenal tyrosinemia (hereditary tyrosinemia type 1 [HT1], or fumarylacetoacetate hydrolase deficiency; OMIM# 276700). HT1 is the most serious and common of the genetic defects in tyrosine degradation. In addition, this disorder has importance as a model of spontaneous self-correction of liver disease, as a model of liver
Markus Grompe
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Tyrosinemia type 1 in pediatric nephrology: Not always straightforward
Archives de Pédiatrie, 2021The main clinical features of tyrosinemia type 1 usually appear in the first months of life, including fever, diarrhea, vomiting, liver involvement, growth failure, and renal proximal tubulopathy with subsequent hypophosphatemic rickets. An early diagnosis is crucial in order to provide specific management and to prevent complications.
Sissa Brito dos Santos +5 more
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Hereditary Tyrosinemia Type 1 in Turkey
2017Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver
Ayse Cigdem, Aktuglu-Zeybek +2 more
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