Results 161 to 170 of about 5,194 (193)

Caregiver Quality of Life with Tyrosinemia Type 1

Journal of Genetic Counseling, 2017
AbstractTyrosinemia type I (HT1) is an inborn error of metabolism (IEM). Current management guidelines include lifelong specialized diet and use of the orphan drug, nitisinone. This study explores the quality of life (QOL) of caregivers of children with HT1. Caregivers for 26 children with HT1 completed a questionnaire (TYR‐QOL) adapted to this patient
Hailey, Campbell, Rani H, Singh, Eric, Hall, Nadia, Ali   +3 more
openaire   +2 more sources

Tyrosinemia Type 1: Metastatic Hepatoblastoma With a Favorable Outcome

Pediatrics, 2010
The clinical course of tyrosinemia type 1 is characterized by acute liver failure in infancy or chronic liver dysfunction and renal Fanconi syndrome in late-presenting cases. Dietary treatment may improve liver function but does not prevent the development of hepatocellular carcinoma (HCC) in late childhood.
Nobili V, Jenkner A, Francalanci P, Castellano A, Holme E, Callea F, Dionisi-Vici C.   +6 more
openaire   +3 more sources

Treatment of tyrosinemia type 1: practical aspects

Nauchno-prakticheskii zhurnal «Medicinskaia genetika, 2022
Лечение многих болезней, включенных в программу расширенного скрининга новорожденных, предусматривает обязательное применение диетотерапии. Рекомендуемые подходы к лечению тирозинемии 1 типа (ТИР1) включают в себя назначение специализированных пищевых продуктов, фармакологическое лечение препаратом нитизинон - пероральным ингибитором фермента FAH на ...
openaire   +1 more source

Decreased mitochondrial oxidative capacity in hereditary tyrosinemia type 1

Scandinavian Journal of Gastroenterology, 2005
A case of decreased mitochondrial oxidative capacity in a child with hereditary tyrosinemia type 1 is herein ...
Rigante D., Gasbarrini A., Nista E. C., Candelli M.   +3 more
openaire   +3 more sources

The outcome of seven patients with hereditary tyrosinemia type 1

Journal of Pediatric Endocrinology and Metabolism, 2016
AbstractBackground:Hereditary tyrosinemia type 1 (HT1) is a rare, inborn error of tyrosine metabolism. It is a fatal disorder without treatment. Early treatment may prevent acute liver failure, renal dysfunction, liver cirrhosis, hepatocellular carcinoma (HCC) and improves survival. The aim of the present study is to describe the clinical, biochemical,
USTKOYUNCU, Pembe Soylu, KENDİRCİ, Mustafa, KARDAŞ, Fatih, GÖKAY, Songül   +3 more
openaire   +3 more sources

Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing

Fetal and Pediatric Pathology, 2016
Prenatal diagnosis using conventional molecular genetic techniques may be encountered with some limitations when the disease causing mutation is unknown. Here, we report on prenatal diagnosis of tyrosinemia in a family with consanguineous marriage and two affected children in whom no disease causing mutation had been identified before pregnancy ...
Maryam, Rafati, Faezeh, Mohamadhashem, Azadeh, Hoseini, Somayeh Darzi, Ramandi, Saeed Reza, Ghaffari   +4 more
openaire   +2 more sources

Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1

2017
Inborn errors of metabolism (IEMs) are a group of diseases involving a genetic defect that alters a metabolic pathway and that presents usually during infancy. The tyrosine degradation pathway contains five enzymes, four of which being associated with IEMs.
Geneviève, Morrow, Robert M, Tanguay
openaire   +2 more sources

Clinical and Biochemical Profile of Tyrosinemia Type 1 in Tunisia

Clinical Laboratory, 2015
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by a defect of fumarylacetoacetate hydrolase. This study aimed to estimate the prevalence of HT1 in Tunisia and report its clinical, biochemical and genetic features.During the last 25 years, 69 patients were diagnosed with HT1 based on clinical features and increased ...
Fahmi, Nasrallah, Mohamed Bessem, Hammami, Hanen, Ben Rhouma, Sondes Hadj, Fradj, Hatem, Azzouz, Souheil, Omar, Moncef, Feki, Ilhem Turki, Ben Youssef, Taieb, Messaoud, Neji, Tebib, Naziha, Kaabachi   +10 more
openaire   +2 more sources

Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways

Biochemical and Biophysical Research Communications, 2010
Hereditary tyrosinemia type 1 is an autosomal recessive metabolic disorder, which is caused by a defective fumarylacetoacetate hydrolase enzyme, and consequently metabolites such as succinylacetone and p-hydroxyphenylpyruvate accumulate. We used a modified comet assay to determine the effect of these metabolites on base- and nucleotide excision repair ...
E, van Dyk, A, Steenkamp, G, Koekemoer, P J, Pretorius   +3 more
openaire   +2 more sources

Gene symbol: FAH disease; Tyrosinemia type 1

2005
-
Arranz, J. A., Rigante, Donato, Antuzzi, Daniela, Riudor, E.   +3 more
openaire   +1 more source