Results 111 to 120 of about 326 (172)

[Tyrosinemia].

Revista chilena de pediatria, 1981
E, Saelzer, C, Norero, T, Young
openaire   +1 more source

Delays in Newborn Screening for Phenylketonuria from Birth to Diagnosis and Factors Affecting This. [PDF]

Children (Basel)
Kadıoğlu Yılmaz B, Bağcı Z.
europepmc   +1 more source

Ex vivo gene editing and cell therapy for hereditary tyrosinemia type 1. [PDF]

Hepatol Commun
Ates I, Stuart C, Rathbone T, Barzi M, He G, Major AM, Shankar V, Lyman RA, Angner SS, Mackay TFC, Srinivasan S, Farris AB, Bissig KD, Cottle RN.   +13 more
europepmc   +1 more source

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

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

Transient tyrosinemia of the newborn.

The Turkish journal of pediatrics, 1978
A Hasanoğlu, I Ozalp
openaire   +2 more sources

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

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