Results 111 to 120 of about 3,205 (146)

Diagnosis and the importance of early treatment of tyrosinemia type 1: A case report. [PDF]

Clin Mass Spectrom, 2019
Škaričić A, Zekušić M, Fumić K, Rogić D, Uroić V, Petković Ramadža D, Žigman T, Barić I.   +7 more
europepmc   +1 more source

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 Çoker   +5 more
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Tyrosinemia type 1 in pediatric nephrology: Not always straightforward

Archives De Pediatrie, 2021
The main clinical features of tyrosinemia type 1 usually appear in the first months of life, including fever, diarrhea, vomiting, liver involvement, growth failure, and renal proximal tubulopathy with subsequent hypophosphatemic rickets. An early diagnosis is crucial in order to provide specific management and to prevent complications.
Laurence Dubourg, Justine Bacchetta
exaly   +3 more sources

The Pathophysiology and Treatment of Hereditary Tyrosinemia Type 1

Seminars in Liver Disease, 2001
The topic of this review is hepatorenal tyrosinemia (hereditary tyrosinemia type 1 [HT1], or fumarylacetoacetate hydrolase deficiency; OMIM# 276700). HT1 is the most serious and common of the genetic defects in tyrosine degradation. In addition, this disorder has importance as a model of spontaneous self-correction of liver disease, as a model of liver
Markus Grompe
exaly   +3 more sources

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

Hereditary Tyrosinemia Type 1 in Turkey

2017
Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver
Cigdem Aktuglu-Zeybek, Ayse, Kiykim, Ertugrul, Cansever, M. Serif   +2 more
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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

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
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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
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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