Results 41 to 50 of about 5,194 (193)

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented? [PDF]

, 2014
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism caused by fumarylacetoacetase deficiency. Biochemically, this results in accumulation of toxic metabolites including succinylacetone. Clinically, HT1 is characterized by severe liver, kidney, and neurological problems.
van Vliet, Danique, van Dam, Esther, van Rijn, Margreet, Derks, Terry G J, Venema-Liefaard, Gineke, Hitzert, Marrit M, Lunsing, Roelineke J, Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J   +8 more
openaire   +3 more sources

A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity

Molecular Genetics and Metabolism Reports, 2022
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disorder caused by a defect in fumarylacetoacetate hydroxylase (FAH) encoded by the FAH gene.
Kazuo Kawabata, Jun Kido, Takanobu Yoshida, Shirou Matsumoto, Kimitoshi Nakamura   +4 more
doaj   +1 more source

P434 Tyrosinemia type 1: a case report [PDF]

Abstracts, 2019
Introduction Tyrosinemia type 1 is an AR inherited metabolic disorder attributed to deficiency of Fumarylacetoacetatehydrolase, which is a terminal enzyme in the metabolism of tyrosine. The gene for this enzyme has been mapped to the long arm of chromosome 15. Its prevalence has been reported as 1: 100.000.
Mahmoud Rashad, Carmen Nasser
openaire   +1 more source

Liver transplantation for biliary atresia [PDF]

, 1984
Orthotopic liver transplantation was performed 15 months to 20 years ago in 126 recipients, all of whom were under 18 years of age. Eighty-six of these pediatric recipients were treated before 1980 with azathioprine (or eyclophosphamide) and prednisone ...
B.W. Shaw Jr., Byers W. Shaw, J.F. Borel, M. Kasai, R.Y. Calne, S. Iwatsuki, Shunzaburo Iwatsuki, T.E. Starzl, T.E. Starzl, T.E. Starzl, T.E. Starzl, T.E. Starzl, Thomas E. Starzl   +12 more
core   +4 more sources

Tyrosinemia type 1: Remaining challenges after introduction of NTBC [PDF]

, 2020
Tyrosinemia type 1 is an inherited metabolic disorder of tyrosine metabolism. Due to an enzymatic defect, the amino acid tyrosine cannot be catabolized properly. As tyrosine is an amino acid - a building block of proteins - dietary intake of protein results in the accumulation of tyrosine associated metabolites in patients with Tyrosinemia type 1 ...
openaire   +2 more sources

Insuficiencia hepática aguda asociada a enfermedades metabólicas hereditarias en ninos pequenos [PDF]

, 2017
INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving.
Dias-Costa, F, Diogo, L, Ferreira, S, Garcia, P, Gonçalves, I, Moinho, R, Pinto, C   +6 more
core   +1 more source

Hereditary Tyrosinemia Type 1—A Rare Disease with Typical Radiological Features: Case Report and Review of Literature

Journal of Gastrointestinal and Abdominal Radiology, 2020
Hereditary tyrosinemia type 1 is one of the many inborn errors of metabolism associated with tyrosine catabolism. It is a rare disease with its incidence or prevalence in India unknown.
Somesh Singh, Rana Vishwadeep Mall, Pragya Chaturvedi, Rajnikant R. Yadav   +3 more
doaj   +1 more source

Fifteen years of clinical liver transplantation [PDF]

, 1979
Liver transplantation in humans was first attempted more than 15 yr ago. The 1-yr survival has slowly improved until it has now reached about 50%. In our experience, 46 patients have lived for at least 1 yr, with the longest survival being 9 yr. The high
Abouna, Absolon, Alper, Bechtelsheimer, Benichou, Birtch, Borel, Borel, Calne, Calne, Calne, Calne, Calne, Calne, Charles G. Halgrimson, Corman, Daloze, Demirleau, Fisch, Fonkalsrud, Fortner, Fortner, Garnier, Gerhard P.J. Schroter, Green, Groth, Groth, Hume, J. Hood, K.A. Porter, Koep, Lampe, Lawrence J. Koep, Lie, Machado, Marchioro, Martineau, McMaster, Moore, Moore, Moore, Peacock, Putnam, Richard Weil, Schroter, Schroter, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Thomas E. Starzl, Wall, Welch, Williams   +65 more
core   +1 more source

A Missense Mutation (Q279R) in the Fumarylacetoacetate Hydrolase Gene, Responsible for Hereditary Tyrosinemia, Acts as a Splicing Mutation [PDF]

, 2012
Background: Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH).
Baklouti, Faouzi, Bergeron, Anne, Dreumont, Natacha, Levy, Harvey Louis, Poudrier, Jacques A, Tanguay, Robert M   +5 more
core   +1 more source

Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes. [PDF]

, 2019
Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a not well-understood pathogenesis.
Czlonkowska, Anna, Kim, Kyoungmi, Litwin, Tomasz, Mazi, Tagreed A, Medici, Valentina, Sarode, Gaurav V, Shibata, Noreene M   +6 more
core   +2 more sources