Results 21 to 30 of about 5,194 (193)

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

Hepatology Communications
Background:. We previously demonstrated the successful use of in vivo CRISPR gene editing to delete 4-hydroxyphenylpyruvate dioxygenase (HPD) to rescue mice deficient in fumarylacetoacetate hydrolase (FAH), a disorder known as hereditary tyrosinemia type
Ilayda Ates, Callie Stuart, Tanner Rathbone, Mercedes Barzi, Gordon He, Angela M. Major, Vijay Shankar, Rachel A. Lyman, Sidney S. Angner, Trudy F.C. Mackay, Shanthi Srinivasan, Alton Brad Farris, Karl-Dimiter Bissig, Renee N. Cottle   +13 more
doaj   +2 more sources

Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1 [PDF]

BMC Medical Genomics, 2022
Background Hereditary tyrosinemia type 1 (HT1; OMIM# 276700) is a genetic metabolism disorder caused by disease-causing variants in the fumarylacetoacetate hydrolase (FAH) gene encoding the last enzyme of the tyrosine catabolic pathway.
Jiao Chen, Junhui Sun, Xuefang Li, Mengmeng Du   +3 more
doaj   +2 more sources

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1) [PDF]

Molecular Genetics & Genomic Medicine, 2023
Background Hereditary tyrosinemia type 1 (HT1) is a rare inherited metabolic disease characterized by severe liver and renal dysfunction. Early identification in affected children is critical for improved treatment options and prognosis.
Huan Chi, Chun Gan, Yaru Jiang, Dan Chen, Jiawen Qiu, Qing Yang, Yaxi Chen, Mo Wang, Haiping Yang, Wei Jiang, Qiu Li   +10 more
doaj   +2 more sources

Type 1 Tyrosinemia in an infant

Medisan, 2018
The case report of a 2 months of age patient is described who was born at term and normal in weight; she fed with exclusive breast feeding and she had a history of 2 previous admissions (severe anemia and common cold).
Pablo Antonio Hernández Dinza, Carlos Ascanio Rodríguez, Odelinda Acosta Camacho   +2 more
doaj   +1 more source

Revisiting hereditary tyrosinemia Type 1-spectrum of radiological findings. [PDF]

BJR Case Rep, 2019
Tyrosinemia is a rare metabolic disease showing autosomal recessive inheritance associated with a deficiency of the enzyme fumarylacetoacetate hydrolase. Absence of this enzyme results in the accumulation of succinylacetone in the tissues which predominantly results in liver injury, renal tubular damage, and neurological manifestation resembling ...
Shaikh S, Qureshi A, Faiq SM.
europepmc   +3 more sources

Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone [PDF]

International Journal of Neonatal Screening
Currently, Dutch newborns are screened for tyrosinemia type 1 (TT1) using succinylacetone (SA) as the biomarker. Although the sensitivity of the test is high, a high number of false positives is observed.
Marelle J. Bouva, Allysa M. Kuypers, Evelien A. Kemper, Rose E. Maase, Annet M. Bosch, Francjan J. van Spronsen, Annemieke C. Heijboer, M. Rebecca Heiner-Fokkema, Sandra G. Heil, Anita Boelen   +9 more
doaj   +2 more sources

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood [PDF]

Medicina
Hereditary type 1 tyrosinemia (HT1) is a rare inherited autosomal recessive disorder of tyrosine metabolism, characterized by progressive liver damage, dysfunction of kidney tubules, and neurological crises.
Rūta Rokaitė, Agnė Čibirkaitė, Vykinta Zeleckytė, Gabija Lazdinytė, Mindaugas Dženkaitis   +4 more
doaj   +2 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

Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet

Molecular Genetics and Metabolism Reports, 2017
Introduction: Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder caused by a defect in the enzyme fumarylacetoacetate hydroxylase in the tyrosine pathway.
María Ignacia García, Alicia de la Parra, Carolina Arias, Miguel Arredondo, Juan Francisco Cabello   +4 more
doaj   +3 more sources

Comment on Pancreatitis in Type 1 Tyrosinemia

Balkan Medical Journal, 2017
Hakim Rahmoune, Nada Boutrid, Mounira Amrane, Belkacem Bioud   +3 more
doaj   +4 more sources