Results 81 to 90 of about 3,205 (146)

Tyrosinemia type 1 [PDF]

, 2020
openaire   +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

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

Heme as an initial treatment for severe decompensation in tyrosinemia type 1 [PDF]

Genetics in Medicine, 2020
Rochus A. Neeleman, J. H. Paul Wilson, Monique Williams, Janneke G. Langendonk   +3 more
openaire   +2 more sources

Hepatocellular carcinoma in an infant with tyrosinemia type 1

Česko-slovenská pediatrie, 2023
Silvie Kelifová, Tomáš Honzík, Markéta Tesařová, Lucie Gonsorčíková, Eva Sticová, Jana Mašková, Josef Mališ, Jiří Froněk, Jiří Zeman   +8 more
openaire   +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

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

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