Results 21 to 30 of about 3,625 (203)

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes [PDF]

Orphanet Journal of Rare Diseases
The third known case in the country of Tyrosinemia type 1 is presented, a 10-month-old male infant who was referred to the emergency room due to hepatomegaly, compromised liver function, neurological deterioration, and abnormal urinary amino acids ...
Michael Vallejo, Valentina Villarreal, María Alejandra Guardiola, William Bachiller, Malory Moreno, Pedro Vargas, Lyssethe Juliana López   +6 more
doaj   +2 more sources

Fallo hepático aguda asociado a enfermedades metabólicas hereditarias en niños pequeños [PDF]

Anales de Pediatría, 2018
Resumen: Introducción: El fallo hepático agudo (FHA) secundario a enfermedades metabólicas hereditarias (EMH) es una enfermedad grave infrecuente de mal pronóstico. La intervención temprana puede salvar vidas. Objetivo: Describir la presentación clínica,
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto   +6 more
doaj   +2 more sources

Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation. [PDF]

Genes (Basel), 2020
Colemonts-Vroninks H, Neuckermans J, Marcelis L, Claes P, Branson S, Casimir G, Goyens P, Martens GA, Vanhaecke T, De Kock J.   +9 more
europepmc   +3 more sources

In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1. [PDF]

Genetics
Rivest JF, Carter S, Goupil C, Antérieux P, Cyr D, Ung RV, Dal Soglio D, Mac-Way F, Waters PJ, Paganelli M, Doyon Y.   +10 more
europepmc   +3 more sources

Identification of circulating microRNAs during the liver neoplastic process in a murine model of hereditary tyrosinemia type 1. [PDF]

Sci Rep, 2016
Angileri F, Morrow G, Scoazec JY, Gadot N, Roy V, Huang S, Wu T, Tanguay RM.   +7 more
europepmc   +3 more sources

A patient with urinary succinylacetone‐negative hereditary tyrosinemia type 1 [PDF]

Pediatrics International, 2023
Jun Mori, Taizo Furukawa, Kazuki Kodo, Hisakazu Nakajima, Miori Yuasa, Mitsuru Kubota, Yosuke Shigematsu   +6 more
openalex   +3 more sources

Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1. [PDF]

Sci Transl Med, 2016
Hickey RD, Mao SA, Glorioso J, Elgilani F, Amiot B, Chen H, Rinaldo P, Marler R, Jiang H, DeGrado TR, Suksanpaisan L, O'Connor MK, Freeman BL, Ibrahim SH, Peng KW, Harding CO, Ho CS, Grompe M, Ikeda Y, Lillegard JB, Russell SJ, Nyberg SL.   +21 more
europepmc   +3 more sources

Hereditary tyrosinemia type 1 in children

Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2019
Hereditary metabolic disorders include a group of diseases (more than 400) when a defect of a particular gene changes the metabolic process leading either to the accumulation of unwanted metabolites, or to a deficiency of a substance. This group also includes hereditary tyrosinemia type 1, a severe defect of tyrosine metabolism caused by deficiency of ...
Г. В. Волынец, А. В. Никитин, Т. А. Скворцова   +2 more
openalex   +3 more sources

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   +3 more sources

The future of gene-targeted therapy for hereditary tyrosinemia type 1 as a lead indication among the inborn errors of metabolism. [PDF]

Expert Opin Orphan Drugs, 2020
Thompson WS, Mondal G, Vanlith CJ, Kaiser RA, Lillegard JB.   +4 more
europepmc   +3 more sources