Results 41 to 50 of about 3,274 (204)

Mspl RFLP in the human fumarylacetoacetate hydrolase (FAH) gene

Nucleic Acids Research, 1991
Sylvie I. Demers, Robert M. Tanguay
openalex   +5 more sources

Identification and Characterization of Novel Variants of Fumarylacetoacetate Hydrolase (FAH) Gene in Clinically Suspected Patients of Tyrosinemia Type 1: Tertiary Care Centre Study of North India

Indian Journal of Clinical Biochemistry
Sant Ram
exaly   +3 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)

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   +1 more source

In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions

Nature Communications, 2022
Hereditary tyrosinemia type 1 (HT1) is an inborn error of metabolism caused by a deficiency in fumarylacetoacetate hydrolase (FAH). Here, the authors show in an animal model that HT1 can be treated via in vivo portal vein administration of a lentiviral ...
Clara T. Nicolas, Caitlin J. VanLith, Raymond D. Hickey, Zeji Du, Lori G. Hillin, Rebekah M. Guthman, William J. Cao, Benjamin Haugo, Annika Lillegard, Diya Roy, Aditya Bhagwate, Daniel O’Brien, Jean-Pierre Kocher, Robert A. Kaiser, Stephen J. Russell, Joseph B. Lillegard   +15 more
doaj   +1 more source

Bg1II RFLP for the human fumarylacetoacetate hydrolase (FAH) gene.

Nucleic acids research, 1991
Sylvie I. Demers, Robert M. Tanguay
openalex   +3 more sources

Tyrosinemia type I: an unusual case presentation

Journal of Biochemical and Clinical Genetics, 2022
Background: Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive inherited metabolic disorder caused by the fumerylacetoacetate hydrolase enzyme deficiency. It is characterized by liver dysfunction and/ or failure, renal tubular dysfunction.
Marwa ALMahroos, Mohammed AlMannai
doaj   +1 more source

Targeting the Apoa1 locus for liver-directed gene therapy

Molecular Therapy: Methods & Clinical Development, 2021
Clinical application of somatic genome editing requires therapeutics that are generalizable to a broad range of patients. Targeted insertion of promoterless transgenes can ensure that edits are permanent and broadly applicable while minimizing risks of ...
Marco De Giorgi, Ang Li, Ayrea Hurley, Mercedes Barzi, Alexandria M. Doerfler, Nikitha A. Cherayil, Harrison E. Smith, Jonathan D. Brown, Charles Y. Lin, Karl-Dimiter Bissig, Gang Bao, William R. Lagor   +11 more
doaj   +1 more source

mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model

Molecular Therapy: Methods & Clinical Development, 2022
Hereditary tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by deficiency of fumarylacetoacetate hydrolase (FAH). Only limited treatment options (e.g., oral nitisinone) are available.
Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Sebastian Wirsching, Beate K. Straub, Jana Hauke, Jürgen G. Okun, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring   +11 more
doaj   +1 more source

Mechanistic Inferences from the Crystal Structure of Fumarylacetoacetate Hydrolase with a Bound Phosphorus-based Inhibitor [PDF]

Journal of Biological Chemistry, 2001
Fumarylacetoacetate hydrolase (FAH) catalyzes the hydrolytic cleavage of a carbon-carbon bond in fumarylacetoacetate to yield fumarate and acetoacetate as the final step of Phe and Tyr degradation. This unusual reaction is an essential human metabolic function, with loss of FAH activity causing the fatal metabolic disease hereditary tyrosinemia type I (
Raynard L. Bateman, P. Bhanumoorthy, John F. Witte, Ronald W. McClard, Markus Grompe, David E. Timm   +5 more
openalex   +4 more sources

Tyrosinemia in a toddler, a case report

Annals of Hepatology, 2022
Introduction and Objectives: This study aimed to present the case of a toddler with acute-on chronic liver failure probably related to tyrosinemia. Case Summary: a two-year four-month-old male infant presented with gastroenteritis, which three days later
GA Gómez Vidrio, M Lescas Orozco, MR Lara Tostado, I Suárez Ponce, FA Reynoso Zarzosa   +4 more
doaj   +1 more source