Results 151 to 160 of about 5,194 (193)

Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report. [PDF]

open access: yesClin Mass Spectrom, 2019
Škaričić A   +7 more
europepmc   +1 more source

Pediatric Liver Transplantation Under Therapy With Cyclosporin-A and Steroids. [PDF]

open access: yes, 1983
Gartner, JC   +5 more
core  

Five-Year Survival After Liver Transplantation. [PDF]

open access: yes, 1985
Iwatsuki, S, Shaw, BW, Starzl, TE
core  

Liver transplantation for inborn errors of metabolism [PDF]

open access: yes, 1977
Koep, L, Putnam, CW, Starzl, TE
core  

Orthotopic liver transplantation [PDF]

open access: yes, 1995
Gordon, RD, Starzl, TE, Van Thiel, DH
core  

The Pathophysiology and Treatment of Hereditary Tyrosinemia Type 1

Seminars in Liver Disease, 2001
The 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
openaire   +4 more sources

Tyrosinemia type 1 in pediatric nephrology: Not always straightforward

Archives de Pédiatrie, 2021
The 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
openaire   +2 more sources

Hereditary Tyrosinemia Type 1 in Turkey

2017
Hereditary 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
openaire   +2 more sources

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