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Select item 109461881.

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

Mohit Kehar, Moinak Sen Sarma, Jayendra Seetharaman, Carolina Jimenez Rivera, Pranesh Chakraborty

Can Liver J. February 2024; 7(1): 54–63. Prepublished online 2024 Jan 31. Published online 2024 Feb 26. doi: 10.3138/canlivj-2023-0018

PMCID:: PMC10946188

Abstract Article PDF–809K

Select item 109191302.

Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children

Sabeen Abid Khan, Misbah Fakih, Nida Taufiq, Afaaf Ahmerin, Asfand Bangash, Munir Iqbal Malik

Clin Med Insights Pediatr. 2024; 18: 11795565241236176. Published online 2024 Mar 6. doi: 10.1177/11795565241236176

PMCID:: PMC10919130

Abstract Article PDF–647K

Select item 108204693.

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood

Rūta Rokaitė, Agnė Čibirkaitė, Vykinta Zeleckytė, Gabija Lazdinytė, Mindaugas Dženkaitis

Medicina (Kaunas) 2024 Jan; 60(1): 135. Published online 2024 Jan 11. doi: 10.3390/medicina60010135

PMCID:: PMC10820469

Abstract Article PDF–769K

Select item 107674334.

Novel HPD mutation p.A244V compound with p.T219M causing tyrosinemia type III in a Chinese girl and review of the genotype–phenotype spectrum

Dong Han, Lihong Wang, Chen Zhao, Juan Li, Chenggang Huang, Wenxia Song, Haiwei Wang, Xiaoze Li, Yilun Tao

Mol Genet Genomic Med. 2024 Jan; 12(1): e2298. Published online 2023 Oct 10. doi: 10.1002/mgg3.2298

PMCID:: PMC10767433

Abstract Article PDF–2.2M

Select item 107442795.

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

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

Int J Neonatal Screen. 2023 Dec; 9(4): 66. Published online 2023 Dec 4. doi: 10.3390/ijns9040066

PMCID:: PMC10744279

Abstract Article PDF–258K

Select item 104598326.

Evaluation of a New ‘Mix-In’ Style Glycomacropeptide-Based Protein Substitute for Food and Drinks in Patients with Phenylketonuria and Tyrosinemia

Marta Delsoglio, Rebecca Capener, Anita MacDonald, Anne Daly, Catherine Ashmore, Sarah Donald, Lisa Gaff, Louise VanDorp, Rachel Skeath, Charlotte Ellerton, Camille Newby, Georgina Dunning, Clare Dale, Inderdip Hunjan, Lucy White, Heather Allen, Gary P. Hubbard, Rebecca J. Stratton

Nutrients. 2023 Aug; 15(16): 3598. Published online 2023 Aug 17. doi: 10.3390/nu15163598

PMCID:: PMC10459832

Abstract Article PDF–1.1M

Select item 103921247.

Case report: ADHD and prognosis in tyrosinemia type 1

Helene Barone, Irene Bircow Elgen, Yngve Thomas Bliksrud, Eirik Vangsøy Hansen, Rita Rigmor Skavhellen, Magne Ivar Furevik, Jan Haavik

Front Psychiatry. 2023; 14: 1213590. Published online 2023 Jul 18. doi: 10.3389/fpsyt.2023.1213590

PMCID:: PMC10392124

Abstract Article PDF–470K

Select item 101583348.

Novel Mutation of Tyrosinemia in a Child With Hypophosphatemic Rickets

Surabhi Dogra, Karunesh Kumar, Rohan Malik, Smita Malhotra, Anupam Sibal

JPGN Rep. 2022 May; 3(2): e176. Published online 2022 Feb 25. doi: 10.1097/PG9.0000000000000176

PMCID:: PMC10158334

Abstract Article PDF–313K

Select item 100479389.

Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype

Jessie Neuckermans, Sien Lequeue, Paul Claes, Anja Heymans, Juliette H. Hughes, Haaike Colemonts-Vroninks, Lionel Marcélis, Georges Casimir, Philippe Goyens, Geert A. Martens, James A. Gallagher, Tamara Vanhaecke, George Bou-Gharios, Joery De Kock

Genes (Basel) 2023 Mar; 14(3): 693. Published online 2023 Mar 11. doi: 10.3390/genes14030693

PMCID:: PMC10047938

Abstract Article PDF–2.4M

Select item 983419310.

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)

Huan Chi, Chun Gan, Yaru Jiang, Dan Chen, Jiawen Qiu, Qing Yang, Yaxi Chen, Mo Wang, Haiping Yang, Wei Jiang, Qiu Li

Mol Genet Genomic Med. 2023 Jan; 11(1): e2090. Published online 2022 Nov 12. doi: 10.1002/mgg3.2090

PMCID:: PMC9834193

Abstract Article PDF–7.6M

Select item 972427611.

The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)

Zahra Beyzaei, Sara Nabavizadeh, Sara Karimzadeh, Bita Geramizadeh

Orphanet J Rare Dis. 2022; 17: 424. Published online 2022 Dec 5. doi: 10.1186/s13023-022-02579-0

PMCID:: PMC9724276

Abstract Article PDF–1.1M

Select item 971914512.

Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1

Jiao Chen, Junhui Sun, Xuefang Li, Mengmeng Du

BMC Med Genomics. 2022; 15: 251. Published online 2022 Dec 3. doi: 10.1186/s12920-022-01406-6

PMCID:: PMC9719145

Abstract Article PDF–1.6M

Select item 964993513.

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

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

Mol Genet Metab Rep. 2022 Dec; 33: 100933. Published online 2022 Nov 8. doi: 10.1016/j.ymgmr.2022.100933

PMCID:: PMC9649935

Abstract Article PDF–2.5M

Select item 954022314.

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

Kimber van Vliet, Willem G. van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Saikat Santra, Corinne De Laet, Philippe J. Goyens, Roshni Vara, Yusof Rahman, David Cassiman, Francois Eyskens, Corrie Timmer, Nicky Mumford, Paul Gissen, Jörgen Bierau, Peter M. van Hasselt, Gisela Wilcox, Andrew A. M. Morris, Elisabeth A. Jameson, Alicia de la Parra, Carolina Arias, Maria I. Garcia, Veronica Cornejo, Annet M. Bosch, Carla E. M. Hollak, M. Estela Rubio‐Gozalbo, Martijn C. G. J. Brouwers, Floris C. Hofstede, Maaike C. de Vries, Mirian C. H. Janssen, Ans T. van der Ploeg, Janneke G. Langendonk, Stephan C. J. Huijbregts, Francjan J. van Spronsen

J Inherit Metab Dis. 2022 Sep; 45(5): 952–962. Published online 2022 Jun 30. doi: 10.1002/jimd.12528

PMCID:: PMC9540223

Abstract Article PDF–1.6M

Select item 953128215.

In vivo quantitative photoacoustic evaluation of the liver and kidney pathology in tyrosinemia

Guojia Huang, Jing Lv, Yong He, Jian Yang, Lvming Zeng, Liming Nie

Photoacoustics. 2022 Dec; 28: 100410. Published online 2022 Sep 28. doi: 10.1016/j.pacs.2022.100410

PMCID:: PMC9531282

Abstract Article PDF–9.2M

Select item 935784216.

mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model

Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Sebastian Wirsching, Beate K. Straub, Jana Hauke, Jürgen G. Okun, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring

Mol Ther Methods Clin Dev. 2022 Sep 8; 26: 294–308. Published online 2022 Jul 15. doi: 10.1016/j.omtm.2022.07.006