Results 111 to 120 of about 5,194 (193)

Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (4OHHA), a putative diagnostic biomarker

JIMD Reports
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease resulting in acute liver failure in early infancy, hypophosphataemic rickets, neurological crises, liver cirrhosis and risk of hepatocellular carcinoma later on in life.
Preeya Rehsi, Karolina Witek, Erin Emmett, Rachel Carling, Charles Turner, Neil Dalton, Tim Hutchin, Nedim Hadzic, Anil Dhawan, Roshni Vara   +9 more
doaj   +1 more source

Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype. [PDF]

Genes (Basel), 2023
Neuckermans J, Lequeue S, Claes P, Heymans A, Hughes JH, Colemonts-Vroninks H, Marcélis L, Casimir G, Goyens P, Martens GA, Gallagher JA, Vanhaecke T, Bou-Gharios G, De Kock J.   +13 more
europepmc   +1 more source

Short-term nitisinone discontinuation of hereditary tyrosinemia type 1 mice causes metabolic alterations in glutathione metabolism/biosynthesis and multiple amino acid degradation pathways. [PDF]

Genes Dis, 2023
Haaike CV, Brendan NP, Sven VL, Andrew DS, Lionel M, Georges C, Philippe G, Paul C, Dimitri B, Geert M, Rao RL, Tamara V, James A G, Joery K.   +13 more
europepmc   +1 more source

Opportunities and costs of clinical research. [PDF]

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

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway. [PDF]

J Inherit Metab Dis, 2022
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, Santra S, De Laet C, Goyens PJ, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Gissen P, Bierau J, van Hasselt PM, Wilcox G, Morris AAM, Jameson EA, de la Parra A, Arias C, Garcia MI, Cornejo V, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ, van Spronsen FJ.   +34 more
europepmc   +1 more source

Liver transplantation and portacaval shunt in genetic diseases [PDF]

, 1982
Starzl, TE
core  

Pediatric Hepatology: A three-year experience with pediatric liver transplantation with cyclosporine and steroids [PDF]

, 1986
Gartner, JC, Iwatsuki, S, Malatack, JJ, Shaw, BW, Starzl, TE, Urbach, AH, Zitelli, BH   +6 more
core  

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Features of Corneal Pseudodendritic Lesions in Hereditary Tyrosinemia Type 1. [PDF]

Am J Case Rep
Bruno R, Donatelli S, Mastropasqua L, Nubile M.   +3 more
europepmc   +1 more source

NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers. [PDF]

J Clin Med, 2021
Fuenzalida K, Leal-Witt MJ, Guerrero P, Hamilton V, Salazar MF, Peñaloza F, Arias C, Cornejo V.   +7 more
europepmc   +1 more source