Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone

by Havva Yazıcı, Ebru Canda, Esra Er, Mehmet Arda Kılınç, Sema Kalkan Uçar, Bülent Karapınar, Mahmut Çoker
Published 2018-03-01

A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I

by Habibe Koç Uçar, Gökhan Tümgör, Deniz Kör, Neslihan Önenli Mungan, Fatih Kardaş
Published 2016-06-01

First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene

by Kostovski Aco, Zdraveska Nikolina, Tesarova Marketa, Zeman Jiři
Published 2017-01-01

The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients

by Willem G. van Ginkel, Hannah E. van Reemst, Nienke S. Kienstra, Anne Daly, Iris L. Rodenburg, Anita MacDonald, Johannes G.M. Burgerhof, Pim de Blaauw, Jennifer van de Krogt, Saikat Santra, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published 2019-11-01

Treatment adherence in tyrosinemia type 1 patients

by Domingo González-Lamuño, Paula Sánchez-Pintos, Fernando Andrade, María L. Couce, Luís Aldámiz-Echevarría
Published 2021-06-01

Generation of an induced pluripotent stem cell line SDQLCHi026-A from a hereditary tyrosinemia type I patient carrying compound heterozygote mutations in FAH gene

by Haiyan Zhang, Chen Liu, Yanyan Ma, Lin Lin, Yuqiang Lv, Min Gao, Zhongtao Gai, Yi Liu
Published 2021-05-01

Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet

by María Ignacia García, Alicia de la Parra, Carolina Arias, Miguel Arredondo, Juan Francisco Cabello
Published 2017-06-01

Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I

by Anne Daly, Sharon Evans, Alex Pinto, Catherine Ashmore, Anita MacDonald
Published 2021-09-01

Hereditary Tyrosinemia Type 1—A Rare Disease with Typical Radiological Features: Case Report and Review of Literature

by Somesh Singh, Rana Vishwadeep Mall, Pragya Chaturvedi, Rajnikant R. Yadav
Published 2020-05-01

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

by Jessica R. C. Priestley, Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan-Walters, Ligia Smith, Can Ficicioglu, Rebecca D. Ganetzky, Rebecca C. Ahrens-Nicklas
Published 2020-05-01

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

by Havva Yazıcı, Esra Er, Ebru Canda, Sara Habif, Sema Kalkan Uçar, Mahmut Çoker
Published 2018-03-01

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

by Imad Dweikat, Nada Qawasmi, Aysha Najeeb, Mohammad Radwan
Published 2021-03-01

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients

by Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Corinne De Laet, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Jörgen Bierau, Peter M. van Hasselt, Paul Gissen, Philippe J. Goyens, Patrick J. McKiernan, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Stephan C. J. Huijbregts, Francjan J. van Spronsen
Published 2019-12-01

Oxidative Stress, Glutathione Metabolism, and Liver Regeneration Pathways Are Activated in Hereditary Tyrosinemia Type 1 Mice upon Short-Term Nitisinone Discontinuation

by Haaike Colemonts-Vroninks, Jessie Neuckermans, Lionel Marcelis, Paul Claes, Steven Branson, Georges Casimir, Philippe Goyens, Geert A. Martens, Tamara Vanhaecke, Joery De Kock
Published 2021-12-01

Inter‐laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples

by Hilde Laeremans, Charles Turner, Tommy Andersson, Jose Angel Cocho deJuan, Adam Gerrard, M. Rebecca Heiner‐Fokkema, Diran Herebian, Nils Janzen, Giancarlo laMarca, Mattias Rudebeck
Published 2020-05-01

Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients

by Kimber van Vliet, Iris L. Rodenburg, Willem G. van Ginkel, Charlotte M.A. Lubout, Bruce H.R. Wolffenbuttel, Melanie M. van der Klauw, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Published 2019-08-01

Genetically blocking HPD via CRISPR-Cas9 protects against lethal liver injury in a pig model of tyrosinemia type I

by Peng Gu, Qin Yang, Bangzhu Chen, Ya-nan Bie, Wen Liu, Yuguang Tian, Hongquan Luo, Tao Xu, Chunjin Liang, Xing Ye, Yan Liu, Xiangwu Tang, Weiwang Gu
Published 2021-06-01

The molecular basis of the genetic mosaicism in hereditary tyrosinemia (HT1) / Etresia van Dyk

by Van Dyk, Etresia
Published 2013

The molecular basis of the genetic mosaicism in hereditary tyrosinemia (HT1) / Etresia van Dyk

by Van Dyk, Etresia
Published 2013

Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I

by Jon Gil-Martínez, Iratxe Macias, Luca Unione, Ganeko Bernardo-Seisdedos, Fernando Lopitz-Otsoa, David Fernandez-Ramos, Ana Lain, Arantza Sanz-Parra, José M Mato, Oscar Millet
Published 2021-02-01