Results 11 to 20 of about 4,798 (243)

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

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

CRISPR/Cas9-Mediated Gene Correction in Newborn Rabbits with Hereditary Tyrosinemia Type I [PDF]

Molecular Therapy, 2021
Nan Li, Hui Shi, Liangxue Lai
exaly   +2 more sources

Behavioral and intellectual functioning in patients with tyrosinemia type I [PDF]

Pediatric Endocrinology, Diabetes and Metabolism, 2012
Introduction: In tyrosinemia type I (TT1) increased level of tyrosine and phenylalanine (both precursors of neurotransmitters), may potentially influence patients’ cognitive development.
Agnieszka Kowalik, Katarzyna Kuśmierska, Marcin Biernacki, Anna Jakubowska-Winecka, Marta Biernacka, Monika Pohorecka, Jolanta Sykut-Cegielska   +6 more
doaj   +2 more sources

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. [PDF]

Hum Mutat, 2016
Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC.   +24 more
europepmc   +3 more sources

Efficient liver repopulation of transplanted hepatocyte prevents cirrhosis in a rat model of hereditary tyrosinemia type I. [PDF]

Sci Rep, 2016
Zhang L, Shao Y, Li L, Tian F, Cen J, Chen X, Hu D, Zhou Y, Xie W, Zheng Y, Ji Y, Liu M, Li D, Hui L.   +13 more
europepmc   +2 more sources

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

International Journal of Neonatal Screening
The authors wish to make the following correction to their paper published in the International Journal of Neonatal Screening [...]
Allysa M. Kuypers, Marelle J. Bouva, J. Gerard Loeber, Anita Boelen, Eugenie Dekkers, Konstantinos Petritis, C. Austin Pickens, The ISNS Representatives, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema   +9 more
doaj   +2 more sources

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation [PDF]

International Journal of Neonatal Screening
In 2023, the Russian Federation expanded its national newborn screening (NBS) program from 5 to 36 conditions, 29 of which are inherited metabolic diseases (IMDs). This study presents the first nationwide results and outcomes of the expanded NBS program.
Ekaterina Y. Zakharova, Galina V. Baydakova, Polina V. Baranova, Darya Y. Aleksandrova, Olga A. Shchagina, Yulia S. Itkis, Natalya V. Milovanova, Tatyana S. Nagornova, Olga N. Ivanova, Yana D. Nazarenko, Sergey V. Voronin, Alena L. Chukhrova, Varvara A. Kadnikova, Ekaterina E. Lotnik, Nina V. Ryadninskaya, Aleksander V. Polyakov, Kirill V. Savostyanov, Fanil S. Bilalov, Alexander L. Koroteev, Dmitry Y. Trofimov, Tatyana A. Bairova, Gulnara N. Seitova, Sergei V. Mordanov, Svetlana A. Matulevich, Elena B. Nikolaeva, Sergey I. Kutsev   +25 more
doaj   +2 more sources

Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico

Annals of Hepatology, 2014
Introduction. Hepatorenal tyrosinemia (HT1) is a treatable, inherited, metabolic disease characterized by progressive liver failure with pronounced coagulopathy.
Cynthia Fernández-Lainez, Isabel Ibarra-González, Leticia Belmont-Martínez, Susana Monroy-Santoyo, Sara Guillén-López, Marcela Vela-Amieva   +5 more
doaj   +3 more sources

A Rapid Screening Test on Dried Blood for the Neonatal Diagnosis of Tyrosinemia Type I. [PDF]

Iran J Pediatr, 2016
Bodaghkhan F, Geramizadeh B, Rajeh AA, Haghighat M, Dehghani M, Honar N, Zahmatkeshan M, Imanieh MH.   +7 more
europepmc   +3 more sources