Results 11 to 20 of about 5,194 (193)

Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1—A Belgian Monocentric Experience [PDF]

JIMD Reports
Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood ...
Anne‐Sophie Adam, Lionel Marcélis, David Fage, Elise Mathieu, Aurélie Empain, Céline Dufour, Frédéric Cotton, Corinne deLaet   +7 more
doaj   +3 more sources

A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone [PDF]

International Journal of Neonatal Screening, 2023
Undiagnosed and untreated tyrosinemia type 1 (TT1) individuals carry a significant risk for developing liver fibrosis, cirrhosis and hepatocellular carcinoma (HCC). Elevated succinylacetone (SA) is pathognomonic for TT1 and therefore often used as marker
Allysa M. Dijkstra, Kimber Evers-van Vliet, M. Rebecca Heiner-Fokkema, Frank A. J. A. Bodewes, Dennis K. Bos, József Zsiros, Koen J. van Aerde, Klaas Koop, Francjan J. van Spronsen, Charlotte M. A. Lubout   +9 more
doaj   +2 more sources

An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review [PDF]

Clinical Case Reports
Tyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation.
Mahsa Rouhafshari, Mohammad Hadi Imanieh, Mahdi Khazaei, Zahra Radaei, Hamide Barzegar   +4 more
doaj   +2 more sources

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

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   +2 more sources

Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1 [PDF]

Metabolism Open, 2021
Background: Tyrosinemia type 1 (hepatorenal tyrosinemia, HT1) is a rare autosomal recessive inborn error of tyrosine metabolism caused by deficiency of the last enzyme in the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH) leading to ...
Imad Dweikat, Nada Qawasmi, Aysha Najeeb, Mohammad Radwan   +3 more
doaj   +2 more sources

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes [PDF]

Orphanet Journal of Rare Diseases
The third known case in the country of Tyrosinemia type 1 is presented, a 10-month-old male infant who was referred to the emergency room due to hepatomegaly, compromised liver function, neurological deterioration, and abnormal urinary amino acids ...
Michael Vallejo, Valentina Villarreal, María Alejandra Guardiola, William Bachiller, Malory Moreno, Pedro Vargas, Lyssethe Juliana López   +6 more
doaj   +2 more sources

Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening [PDF]

Molecular Genetics and Metabolism Reports, 2022
Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase.
Hela Hajji, Apolline Imbard, Anne Spraul, Ludmia Taibi, Valérie Barbier, Dalila Habes, Anaïs Brassier, Jean-Baptiste Arnoux, Juliette Bouchereau, Samia Pichard, Samira Sissaoui, Florence Lacaille, Muriel Girard, Dominique Debray, Pascale de Lonlay, Manuel Schiff   +15 more
doaj   +2 more sources

Untargeted Metabolomics Reveals Metabolic Reprogramming Linked to HCC Risk in Late Diagnosed Tyrosinemia Type 1 [PDF]

Metabolites
Background/Objectives: Tyrosinemia type 1 (HT-1) is a treatable inherited disorder characterized by disrupted tyrosine metabolism, leading to severe liver, renal, and occasionally neurological dysfunction.
Anna Sidorina, Cristiano Rizzo, María Jesús Leal-Witt, Carolina Arias, Ignacio Cortés, Verónica Cornejo, Elisa Sacchetti, Giulio Catesini, Sara Boenzi, Carlo Dionisi-Vici, Karen Fuenzalida   +10 more
doaj   +2 more sources

Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1 [PDF]

International Journal of Neonatal Screening
Hereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic comorbidities. Early detection of this disorder is possible with newborn screening (NBS).
Barbra Charina V. Cavan, Leniza G. de Castro-Hamoy, Conchita G. Abarquez, Ebner Bon G. Maceda, Maria Melanie Liberty B. Alcausin   +4 more
doaj   +2 more sources

Generation of immunodeficient pig with hereditary tyrosinemia type 1 and their preliminary application for humanized liver [PDF]

Cell & Bioscience, 2022
Background Mice with humanized livers are important models to study drug toxicology testing, development of hepatitis virus treatments, and hepatocyte transplantation therapy.
Jilong Ren, Dawei Yu, Jing Wang, Kai Xu, Yanan Xu, Renren Sun, Peipei An, Chongyang Li, Guihai Feng, Ying Zhang, Xiangpeng Dai, Hongye Zhao, Zhengzhu Wang, Zhiqiang Han, Haibo Zhu, Yuchun Ding, Xiaoyan You, Xueqin Liu, Meng Wu, Lin Luo, Ziyi Li, Yong-Guang Yang, Zheng Hu, Hong-jiang Wei, Liangpeng Ge, Tang Hai, Wei Li   +26 more
doaj   +2 more sources