Results 31 to 40 of about 3,625 (203)

The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation. [PDF]

JIMD Rep, 2019
Baydakova GV, Ivanova TA, Mikhaylova SV, Saydaeva DK, Dzhudinova LL, Akhlakova AI, Gamzatova AI, Bychkov IO, Zakharova EY.   +8 more
europepmc   +3 more sources

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   +3 more sources

An Unusual Case of Hereditary Tyrosinemia Type 1 and Bronchomalasia

The Journal of Tepecik Education and Research Hospital, 2007
Bülent Karapınar, Cem Karadeniz, Yasin Bulut, Esen Demir, Ayten Egemen, Mahmut Çöker   +5 more
openalex   +3 more sources

Hereditary Tyrosinemia Type-1 With Late Presentation: A Case Report. [PDF]

Cureus
The etiology of hereditary tyrosinemia type 1 (HT-1) is the absence of fumarylacetoacetate hydrolase (FAH), an enzyme that catalyzes the last stage of the tyrosine breakdown process. With an autosomal recessive inheritance pattern, it is an uncommon genetic condition. We present a case of HT-1 in a three-year-old female child characterized by abdominal
Ilyaz M, Jadhav RS, Pande V, Mane S, Mokkarala P.   +4 more
europepmc   +3 more sources

EX VIVO GENE EDITING AND CELL THERAPY FOR HEREDITARY TYROSINEMIA TYPE 1 [PDF]

, 2023
ABSTRACT Background & Aims We previously demonstrated the successful use of in vivo CRISPR gene editing to delete 4-hydroxyphenylpyruvate dioxygenase ( HPD ) to rescue mice deficient in ...
Ilayda Ates, Tanner Rathbone, Callie Stuart, Mercedes Barzi, Gordon He, Angela M. Major, Shanthi Srinivasan, Alton B. Farris, Karl‐Dimiter Bissig, Renee N. Cottle   +9 more
openalex   +2 more sources

Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1 [PDF]

Kidney International, 2004
Markus Grompe
exaly   +2 more sources

First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2017
Introduction. Hereditary tyrosinemia type 1 (HT1) is a severe hereditary metabolic disorder of tyrosine metabolism due to fumarylacetoacetate hydrolase (FAH) deficiency and accumulation of toxic products in tissues. More than 80 mutations in the FAH gene
Kostovski Aco, Zdraveska Nikolina, Tesarova Marketa, Zeman Jiři   +3 more
doaj   +1 more source

A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity

Molecular Genetics and Metabolism Reports, 2022
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disorder caused by a defect in fumarylacetoacetate hydroxylase (FAH) encoded by the FAH gene.
Kazuo Kawabata, Jun Kido, Takanobu Yoshida, Shirou Matsumoto, Kimitoshi Nakamura   +4 more
doaj   +1 more source

Genetic studies of reversion in hereditary tyrosinemia type 1

, 2000
Kara Manning
openalex   +2 more sources

Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1. [PDF]

J Biol Chem, 2017
Hereditary tyrosinemia type 1 (HT1) is a severe human autosomal recessive disorder caused by the deficiency of fumarylacetoacetate hydroxylase (FAH), an enzyme catalyzing the last step in the tyrosine degradation pathway. Lack of FAH causes accumulation of toxic metabolites (fumarylacetoacetate and succinylacetone) in blood and tissues, ultimately ...
Li L, Zhang Q, Yang H, Zou Q, Lai C, Jiang F, Zhao P, Luo Z, Yang J, Chen Q, Wang Y, Newsome PN, Frampton J, Maxwell PH, Li W, Chen S, Wang D, Siu TS, Tam S, Tse HF, Qin B, Bao X, Esteban MA, Lai L.   +23 more
europepmc   +6 more sources