Results 111 to 120 of about 306 (158)

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   +1 more source

The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction. [PDF]

J Hum Genet, 2018
Scalet D, Sacchetto C, Bernardi F, Pinotti M, van de Graaf SFJ, Balestra D.   +5 more
europepmc   +1 more source

Tyrosinemia

, 2019
Äärelä, Linnea, Hiltunen, Pauliina, Jalanko, Hannu, Kurppa, Kalle   +3 more
openaire   +1 more source

Engineering a transposon-associated TnpB-ωRNA system for efficient gene editing and phenotypic correction of a tyrosinaemia mouse model. [PDF]

Nat Commun
Li Z, Guo R, Sun X, Li G, Shao Z, Huo X, Yang R, Liu X, Cao X, Zhang H, Zhang W, Zhang X, Ma S, Zhang M, Liu Y, Yao Y, Shi J, Yang H, Hu C, Zhou Y, Xu C.   +20 more
europepmc   +1 more source

Progress in Gene Therapy for Hereditary Tyrosinemia Type 1. [PDF]

Pharmaceutics
Thomas H, Carlisle RC.
europepmc   +1 more source

Tyrosinemia

, 2018
Äärelä, Linnea, Hiltunen, Pauliina, Jalanko, Hannu, Kurppa, Kalle   +3 more
openaire   +1 more source

A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation.

Adv Biomed Res, 2018
Najafi R, Mostofizadeh N, Hashemipour M.
europepmc   +1 more source

Analisi della struttura dei geni codificanti i recettori dell'ormone tiroideo in un modello di epatocancerogenesi sperimentale [PDF]

, 2010
Pinna, Silvia
core   +3 more sources

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TYROSINEMIA

Acta Pathologica Japonica, 1979
A case of tyrosinemia in a three‐month‐old boy is presented. The patient appeared jaundiced initially with markedly elevated levels of serum tyrosine and a positive Millon‐reacting urine. Jaundice persisted and hepatospleno‐megaly gradually increased. He died due to liver failure on the 51st day after admission.
Y, Shinohara, R, Hasegawa, N, Ito, M, Kanayama, T, Kato, Y, Wada   +5 more
openaire   +2 more sources