Results 91 to 100 of about 3,205 (146)

Diagnosis and the importance of early treatment of tyrosinemia type 1

, 2019
Tyrosinemia type 1 is an autosomal recessive aminoacidopathy caused by fumarylacetoacetate hydrolase (FAH) deficiency. Consequently, tyrosine and its metabolites accumulate, resulting in liver and kidney toxicity. Symptoms of the disease usually manifest after three weeks of life and include vomiting, failure to thrive, hepatomegaly, jaundice, bleeding
Škaričić, Ana, Zekušić, Marija, Fumić, Ksenija, Rogić, Dunja, Uroić, Valentina, Petković Ramadža, Danijela, Žigman, Tamara, Barić, Ivo   +6 more
openaire   +1 more source

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines. [PDF]

J Inherit Metab Dis
Kuypers AM, Das AM, Maiorana A, Heiner-Fokkema MR, van Spronsen FJ, TT1 MetabERN Professional Collaboration Group.   +5 more
europepmc   +1 more source

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant. [PDF]

Mol Genet Metab Rep, 2022
Sikonja J, Brecelj J, Zerjav Tansek M, Repic Lampret B, Drole Torkar A, Klemencic S, Lipovec N, Stefanova Kralj V, Bertok S, Kovac J, Faganel Kotnik B, Tesarova M, Remec ZI, Debeljak M, Battelino T, Groselj U.   +15 more
europepmc   +1 more source

Induced Liver Regeneration Enhances CRISPR/Cas9-Mediated Gene Repair in Tyrosinemia Type 1. [PDF]

Hum Gene Ther, 2021
Zhang QS, Tiyaboonchai A, Nygaard S, Baradar K, Major A, Balaji N, Grompe M.   +6 more
europepmc   +1 more source

Comment on Pancreatitis in Type 1 Tyrosinemia REPLY

, 2019
WOS ...
openaire   +1 more source

Integrating Machine Learning and Follow-Up Variables to Improve Early Detection of Hepatocellular Carcinoma in Tyrosinemia Type 1: A Multicenter Study. [PDF]

Int J Mol Sci
Fuenzalida K, Leal-Witt MJ, Acevedo A, Muñoz M, Gudenschwager C, Arias C, Cabello JF, La Marca G, Rizzo C, Pietrobattista A, Spada M, Dionisi-Vici C, Cornejo V.   +12 more
europepmc   +1 more source

Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. <i>Int. J. Neonatal Screen.</i> 2024, <i>10</i>, 82. [PDF]

Int J Neonatal Screen
Kuypers AM, Bouva MJ, Loeber JG, Boelen A, Dekkers E, Petritis K, Pickens CA, The Isns Representatives, van Spronsen FJ, Heiner-Fokkema MR.   +9 more
europepmc   +1 more source

Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children. [PDF]

Clin Med Insights Pediatr
Khan SA, Fakih M, Taufiq N, Ahmerin A, Bangash A, Iqbal Malik M.   +5 more
europepmc   +1 more source

In vivo dissection of the mouse tyrosine catabolic pathway with CRISPR-Cas9 identifies modifier genes affecting hereditary tyrosinemia type 1. [PDF]

Genetics
Rivest JF, Carter S, Goupil C, Antérieux P, Cyr D, Ung RV, Dal Soglio D, Mac-Way F, Waters PJ, Paganelli M, Doyon Y.   +10 more
europepmc   +1 more source

Decoding hepatorenal tyrosinemia type 1: Unraveling the impact of early detection, NTBC, and the role of liver transplantation. [PDF]

Can Liver J
Kehar M, Sen Sarma M, Seetharaman J, Jimenez Rivera C, Chakraborty P.   +4 more
europepmc   +1 more source