Results 91 to 100 of about 6,468 (222)

Neurological crisis mimicking acute pancreatitis in tyrosinemia type I

The Turkish Journal of Pediatrics, 1999
Hereditary tyrosinemia results from an inborn error in the final step of tyrosine metabolism. Neurological manifestations have been reported in nearly half of patients during illness to have characteristics of altered consciousness, weakness ...
H S Kalkanoğlu, T Coşkun
doaj  

Tirosinemia neonatal Neonatal tyrosinemia

Iatreia, 1995
Mediante la técnica de Udenfriend y Cooper, se midieron los niveles de tirosina en la sangre del cordón de 26 prematuros y 31 niños de término, con el fin de comparar las concentraciones según la edad gestacional y detectar la presencia de la tirosinemia
Rafael J. Manotas Cabarcas, Luis Carlos Burgos Herrera   +1 more
doaj  

CIRROSIS HEPATICA EN LACTANTE: UNA FORMA DE PRESENTACION DE LA TIROSINEMIA

Revista Chilena de Radiología, 2002
Se presentan 2 casos documentados de lactantes portadores de Tirosinemia tipo I (Hepatorenal). Se describen los hallazgos imagenológicos principales de ella en los órganos blanco: Hígado (Cirrosis Hepática) y riñones (Nefromegalia) y se confrontan con ...
Rodolfo Mardones R, Roberto Mondaca A, Ricardo Ávila R   +2 more
doaj  

Opportunities and costs of clinical research. [PDF]

, 1985
Gavaler, JS, Starzl, TE, Tarter, R, Van Thiel, DH   +3 more
core   +1 more source

LABRAD : Vol 39, Issue 2 - December 2013 [PDF]

, 2013
Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core   +1 more source

Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion

The Turkish Journal of Pediatrics, 2011
Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine aminotransferase enzyme. We report a 15-year-old female patient with complaints of
Güzin Iskeleli, Mustafa Değer Bilgeç, Ceyhun Arici, Eray Atalay, Tülin Oğreden, Ahmet Aydin   +5 more
doaj  

Richner-Hanhart Syndrome (Tyrosinemia Type II) A Case Report of Delay Diagnosis with Hyperkeratotic Lesions of Palmes and Soles

پزشکی بالینی ابن سینا, 2014
Introduction: Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine ami-notransferase enzyme.
Zahra Alian
doaj  

Tyrosinemia

Discussion of Clinical Cases, 2015
Chen Hua, Jin-li Hao, Xin Wang, Hong Cui, Ya-jing Zhang   +4 more
openaire   +2 more sources

Evolution of Liver Transplantation [PDF]

, 1982
Abouna, Alper, Alper, Andres, Aune, Bechtelsheimer, Benichou, Berman, Birtch, Birtch, Borel, Borel, Brettschneider, Brölsch, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Calne, Cannon, Carpenter, Corman, Craig, Daloze, Demirleau, Noureddine, Vignes, Dubois, Fennell, Fisch, Fonkalsrud, Fortner, Fortner, Franksson, Fulginiti, Gamier, Gips, Green, Groth, Groth, Groth, Herbertson, Hood, Houssin, Houssin, Hume, Hume, Hunt, Iwatsuki, Iwatsuki, Iwatsuki, Johnson, Kahan, Kashiwagi, Keown, Klintmalm, Klintmalm, Kostakis, Lampe, Lie, Limmer, Machado, Marchioro, Martineau, McDonald, Mikaeloff, Mikaeloff, Moore, Moore, Murray, Murray, Murray, Myburgh, Najarian, Neuberger, O'Donnell, Opelz, Orr, Pappas, Peacock, Penn, Picache, Pichlmayr, Porter, Portmann, Powles, Putnam, Raum, Rynasiewicz, Schroter, Schroter, Shaw, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Starzl, Strober, Sweny, Terblanche, von Kaulla, Waddell, Wall, Williams, Wolff, Woodruff   +142 more
core   +1 more source

Liver transplantation for hereditary tyrosinemia in the presence of hepatocellular carcinoma. [PDF]

, 1989
Ambrosino, G, Esquivel, CO, Makowka, L, Marino, IR, Mieles, L, Nakazato, P, Starzl, TE, Todo, S   +7 more
core