Results 81 to 90 of about 6,468 (222)
A clinical case of late diagnosis of a chronic type I tyrosinemia
Consilium MedicumTyrosinemia type 1 is a genetic disease mainly of the first months and years of life caused by a violation of normal tyrosine catabolism with the formation of final toxic metabolites that have a direct damaging effect on the liver and kidneys with the ...
Natalia V. Chebotareva +6 more
doaj +1 more source
Étude démographique et généalogique de deux maladies héréditaires au Saguenay [PDF]
, 1984 La population du Saguenay est depuis longtemps reconnue pour l’ampleur des problèmes génétiques auxquels elle fait face. S’agissant en particulier de maladies récessives comme la tyrosinémie, l’ataxie de Friedreich (forme Charlevoix-Saguenay), le ...
Bergeron, Lise +7 more
core +1 more source
Molecular Genetics and Metabolism Reports, 2019 Palmoplantar keratoderma (PPK) is a defect in cornification that is characterized by progressive hyperkeratosis of palms and soles. Many phenotypes are linked with PPK, making exome-based diagnosis increasingly efficient.
Fady Hannah-Shmouni +5 more
doaj +1 more source
Prognostic value of thyroid hormone levels in patients evaluated for liver transplantation [PDF]
, 1985 The thyroid hormones T4, T3, rT3 and TSH were assayed in 134 adult patients evaluated and accepted as potential liver transplant candidates at the Universty of Pittsburgh from March, 1981 to December, 1983.
Carter +20 more
core +1 more source
Transient tyrosinemia of the newborn
The Turkish Journal of Pediatrics, 1978 A Hasanoğlu, I Ozalp
doaj +2 more sources
Orthotopic liver transplantation in children. Two-year experience with 47 patients [PDF]
, 1984 During a 24-month period (May 1981 to May 1983), 47 pediatric patients (ranging in age from 7 months to 18 years) underwent orthotopic liver transplantation using cyclosporine and prednisone.
Gartner, JC +5 more
core
Total hepatectomy and liver replacement (orthotopic liver transplantation) for primary hepatic malignancy [PDF]
, 1982 There has been a high incidence of tumor recurrence after liver transplantation for primary hepatic malignancy. Nevertheless, a small but significant palliation has been possible with this approach, even in patients who eventually died of recurrence. Two
Goran B. G. Klintmalm +7 more
core +1 more source
Armaghane Danesh Bimonthly Journal, 2019 Background & aim: Tyrosinemia is a recessive autosomal genetic disease due to the defect of fumaril acetoacetate hydrolase (FAH). About 40 pathogenic mutations have been reported for this gene.
A Keshtkari +3 more
doaj
, 1979 Human liver transplantation, which was first performed in man in Denver 15 years ago, has finally come of age in the past 2 years. The 1 year survival has improved from 28 per cent to 50 per cent in the recent Denver Second Series.
Koep, LJ, Starzl, TE, Terblanche, J
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Nature Communications, 2019 Decreased expression of 4-hydroxyphenylpyruvic acid dioxygenase (HPD) has been linked to tyrosinemia, yet the mechanism underlying the regulation of HPD expression is largely unknown.
Yajun Xie +10 more
doaj +1 more source