Results 141 to 150 of about 4,798 (243)

Liver homotransplantation [PDF]

, 1986
Iwatsuki, S, Shaw, BW, Starzl, TE
core  

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant [PDF]

, 2019
Isabel Ibarra‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐del Angel, Liliana Fernández-Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varela‐Fascinetto, Marcela Vela‐Amieva   +9 more
openalex   +1 more source

Dental anomalies in a patient with Tyrosinemia type I: first case report in the literature

Hercílio Martelli Júnior, Hélen Kaline Farias Bezerra, Anna Luiza Braga Albuquerque, Rodrigo Rezende Arantes, Marcelo Augusto Oliveira de Sales, Felipe Paiva Fonseca, Renato Assis Machado, Ana Cristina Simões e Silva   +7 more
openalex   +2 more sources

A Review of Metabolic Disorder of Amino Acid Tyrosinemia type I: When to Suspect and how to Diagnose

, 2017
Hanna Alobaidy
openalex   +1 more source

Identification of 2-[2-nitro-4-(trifluoromethyl)benzoyl]- cyclohexane-1,3-dione metabolites in urine of patients suffering from tyrosinemia type I with the use of 1H and 19F NMR spectroscopy.

, 2008
Przemysław Szczeciński, Diana Lamparska, Adam Gryff‐Keller, Wanda Gradowska   +3 more
openalex   +1 more source

SIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights. [PDF]

Int J Mol Sci
Saraceno E, Serra I, Bracci B, Pagliardini V, Pinon M, Tuli G, Versace A, Bondone C, Spada M.   +8 more
europepmc   +1 more source

Orthotopic liver transplantation [PDF]

, 1980
Starzl, TE
core  

Plantar keratoderma : A manifestation of tyrosinemia type II (Richner-Hanhart syndrome).

Annals of Saudi Medicine, 2005
Al-Ratrout Jihad, Al-Muzian Mohammed, Al-Nazer Mona, Ansari Naseem   +3 more
doaj  

Different Clinic, Different Diagnosis: Tyrosinemia Type 3. [PDF]

Mol Syndromol
Basan H, Ceylaner S, Küçükcongar Yavaş A.   +2 more
europepmc   +1 more source

Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. [PDF]

JIMD Rep, 2011
Dursun A, Ozgül RK, Sivri S, Tokatlı A, Güzel A, Mesci L, Kılıç M, Aliefendioglu D, Ozçay F, Gündüz M, Coşkun T.   +10 more
europepmc   +1 more source