Results 21 to 30 of about 4,798 (243)

Design of Polymerase Chain Reaction Initiators and Their Function to Identify FAH Mutations in Type I Tyrosinemia

Armaghane Danesh Bimonthly Journal, 2019
Background & aim: Tyrosinemia is a recessive autosomal genetic disease due to the defect of fumaril acetoacetate hydrolase (FAH). About 40 pathogenic mutations have been reported for this gene.
A Keshtkari, S Samanpour, SE Hosseini, S Hassanzadeh   +3 more
doaj   +1 more source

Enhancing Newborn Screening for Tyrosinemia Type I [PDF]

Clinical Chemistry, 2008
Hepatorenal tyrosinemia, also known as tyrosinemia type I (Tyr-I) is an autosomal recessive inborn error of metabolism. The primary enzyme defect has been attributed to a deficiency of fumarylacetoacetase (EC 3.7.1.2)(1). Tyr-I is usually asymptomatic in newborns, but if left untreated it affects liver, kidney, bone, and peripheral nerves; in its most ...
Mark Morrissey, Kenneth A Pass
openaire   +3 more sources

Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs. [PDF]

Mol Genet Metab, 2014
De Jesús VR, Adam BW, Mandel D, Cuthbert CD, Matern D.   +4 more
europepmc   +3 more sources

A clinical case of late diagnosis of a chronic type I tyrosinemia

Consilium Medicum
Tyrosinemia type 1 is a genetic disease mainly of the first months and years of life caused by a violation of normal tyrosine catabolism with the formation of final toxic metabolites that have a direct damaging effect on the liver and kidneys with the ...
Natalia V. Chebotareva, Elvira D. Stafeeva, Olga А. Li, Agunda M. Kuchieva, Svetlana I. Polyakova, Jamal T. Abdurakhmanov, Sergey V. Moiseev   +6 more
doaj   +3 more sources

Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients

, 2017
Clinically, Hereditary Tyrosinemia type I (HTI) is especially characterized by severe liver dysfunction in early life. However, recurrent neurological crises are another main finding in these patients when they are treated with a tyrosine and phenylalanine restricted diet only.
van Ginkel, Willem G., Jahja, Rianne, Huijbregts, Stephan C. J., van Spronsen, Francjan J.   +3 more
openaire   +5 more sources

Heat shock response associated with hepatocarcinogenesis in a murine model of hereditary tyrosinemia type I. [PDF]

Cancers (Basel), 2014
Angileri F, Morrow G, Roy V, Orejuela D, Tanguay RM.   +4 more
europepmc   +3 more sources

A Case Report of Hereditary Tyrosinemia type I [PDF]

Endocrinology and Disorders
Summary of case history: Patient is a 3-year-old female and was first diagnosed on September 1st, 2020 (postnatal day 20) due to lasting high tyrosine level detected for 11 consecutive days. Symptoms and signs: Patient did not exhibit jaundice, hemorrhage, or ascites. Physical examinations did not show any obvious abnormality.
Shang Xiaohong
openaire   +2 more sources

Hereditary tyrosinemia type I-associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate. [PDF]

J Biol Chem, 2019
Macias I, Laín A, Bernardo-Seisdedos G, Gil D, Gonzalez E, Falcon-Perez JM, Millet O.   +6 more
europepmc   +3 more sources

Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya. [PDF]

Iran J Pediatr, 2015
Alobaidy H, Barkaoui E.
europepmc   +3 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