Works matching Tyrosinemia

Results: 429

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).

Published in:

Application of Clinical Genetics, 2017, v. 10, p. 43, doi. 10.2147/TACG.S113310

By:

Das, Anibh Martin

Publication type:

Article

Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.

Published in:

Turkish Journal of Pediatrics, 2011, v. 53, n. 6, p. 692

By:

İskeli, Güzin;
Bilgeç, Mustafa Değer;
Arıcı, Ceyhun;
Atalay, Eray;
Öğreden, Tülin;
Aydin, Ahmet

Publication type:

Article

Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing.

Published in:

Fetal & Pediatric Pathology, 2016, v. 35, n. 4, p. 282, doi. 10.3109/15513815.2016.1167149

By:

Rafati, Maryam;
Mohamadhashem, Faezeh;
Hoseini, Azadeh;
Ramandi, Somayeh Darzi;
Ghaffari, Saeed Reza

Publication type:

Article

Role of antioxidant treatment on DNA and lipid damage in the brain of rats subjected to a chemically induced chronic model of tyrosinemia type II.

Published in:

Molecular & Cellular Biochemistry, 2017, v. 435, n. 1/2, p. 207, doi. 10.1007/s11010-017-3070-5

By:

Streck, Emilio;
Prá, Samira;
Ferro, Paula;
Carvalho-Silva, Milena;
Gomes, Lara;
Agostini, Jotele;
Damiani, Adriani;
Andrade, Vanessa;
Schuck, Patrícia;
Ferreira, Gustavo;
Scaini, Giselli

Publication type:

Article

Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.

Published in:

2017

By:

Stinton, Chris;
Geppert, Julia;
Freeman, Karoline;
Clarke, Aileen;
Johnson, Samantha;
Fraser, Hannah;
Sutcliffe, Paul;
Taylor-Phillips, Sian

Publication type:

journal article

Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III.

Published in:

Cognitive Neuropsychology, 2018, v. 35, n. 3/4, p. 120, doi. 10.1080/02643294.2018.1443913

By:

Blundell, James;
Frisson, Steven;
Chakrapani, Anupam;
Kearney, Shauna;
Vijay, Suresh;
MacDonald, Anita;
Gissen, Paul;
Hendriksz, Chris;
Olson, Andrew

Publication type:

Article

Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.

Published in:

2013

By:

Mohamed, Sarar;
Kambal, Mohammed A.;
Al Jurayyan, Nasir A.;
Al-Nemri, Abdulrahman;
Babiker, Amir;
Hasanato, Rana;
Al-Jarallah, Abdullah S.

Publication type:

Case Study

MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients.

Published in:

Molecular Biology Reports, 2013, v. 40, n. 7, p. 4619, doi. 10.1007/s11033-013-2555-x

By:

Karatas, Omer;
Guzel, Esra;
Karaca, Ender;
Sevli, Serhat;
Soyucen, Erdogan;
Yuksel, Adnan;
Ozen, Mustafa

Publication type:

Article

Hereditary Tyrosinemia Type I, Presentation in a Two Month Old.

Published in:

Annals of Abbasi Shaheed Hospital & Karachi Medical & Dental College, 2016, v. 21, n. 2, p. 120

By:

Khan, Muhammad Asad;
Haq, Ayesha;
Aziz, Sina

Publication type:

Article

Omega-3 fatty acid supplementation decreases DNA damage in brain of rats subjected to a chemically induced chronic model of Tyrosinemia type II.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 4, p. 1043, doi. 10.1007/s11011-017-9994-3

By:

Carvalho-Silva, Milena;
Gomes, Lara;
Scaini, Giselli;
Rebelo, Joyce;
Damiani, Adriani;
Pereira, Maiara;
Andrade, Vanessa;
Gava, Fernanda;
Valvassori, Samira;
Schuck, Patricia;
Ferreira, Gustavo;
Streck, Emilio

Publication type:

Article

Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone.

Published in:

Metabolic Brain Disease, 2016, v. 31, n. 5, p. 1181, doi. 10.1007/s11011-016-9833-y

By:

Önenli Mungan, Neslihan;
Yıldızdaş, Dinçer;
Kör, Deniz;
Horoz, Özden;
İncecik, Faruk;
Öktem, Murat;
Sander, Johannes

Publication type:

Article

Behavioral and intellectual functioning in patients with tyrosinemia type I.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2012, v. 18, n. 3, p. 96

By:

Pohorecka, Monika;
Biernacka, Marta;
Jakubowska-Winecka, Anna;
Biernacki, Marcin;
Kuśmierska, Katarzyna;
Kowalik, Agnieszka;
Sykut-Cegielska, Jolanta

Publication type:

Article

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.

Published in:

2017

By:

Geppert, Julia;
Stinton, Chris;
Freeman, Karoline;
Fraser, Hannah;
Clarke, Aileen;
Johnson, Samantha;
Sutcliffe, Paul;
Taylor-Phillips, Sian

Publication type:

journal article

Clinical and Para Clinical Findings in the Children with Tyrosinemia Referring for Liver Transplantation.

Published in:

International Journal of Preventive Medicine, 2013, v. 4, n. 12, p. 1380

By:

Dehghani, Seyed Mohsen;
Haghighat, Mahmood;
Imanieh, Mohammad Hadi;
Karamnejad, Hossein;
Malekpour, Abdorrasoul

Publication type:

Article

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 306, doi. 10.1111/cge.13003

By:

Peña‐Quintana, L.;
Scherer, G.;
Curbelo‐Estévez, M.L.;
Jiménez‐Acosta, F.;
Hartmann, B.;
La Roche, F.;
Meavilla‐Olivas, S.;
Pérez‐Cerdá, C.;
García‐Segarra, N.;
Giguère, Y.;
Huppke, P.;
Mitchell, G.A.;
Mönch, E.;
Trump, D.;
Vianey‐Saban, C.;
Trimble, E.R.;
Vitoria‐Miñana, I.;
Reyes‐Suárez, D.;
Ramírez‐Lorenzo, T.;
Tugores, A.

Publication type:

Article

Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.

Published in:

Clinical Genetics, 2014, v. 86, n. 2, p. 167, doi. 10.1111/cge.12243

By:

Pérez‐Carro, R.;
Sánchez‐Alcudia, R.;
Pérez, B.;
Navarrete, R.;
Pérez‐Cerdá, C.;
Ugarte, M.;
Desviat, L.R.

Publication type:

Article

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.

Published in:

2016

By:

van Ginkel, Willem G.;
Jahja, Rianne;
Huijbregts, Stephan C. J.;
Daly, Anne;
MacDonald, Anita;
De Laet, Corinne;
Cassiman, David;
Eyskens, François;
Körver-Keularts, Irene M. L. W.;
Goyens, Philippe J.;
McKiernan, Patrick J.;
van Spronsen, Francjan J.

Publication type:

journal article

Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia type 1 (HT1).

Published in:

Biochemical Society Transactions, 2015, v. 43, n. 4, p. 650, doi. 10.1042/BST20150041

By:

Sandhu, Ivraj Singh;
Maksim, Nicholas James;
Amouzougan, Eva Alice;
Gallion, Bryce Wilson;
Raviele, Anthony L. J.;
Ooi, Aikseng

Publication type:

Article

Abnormal social behavior in mice with tyrosinemia type I is associated with an increase of myelin in the cerebral cortex.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 6, p. 1829, doi. 10.1007/s11011-017-0071-8

By:

Moore, Marissa;
Koenig, Ashton;
Hillgartner, Megan;
Otap, Christopher;
Barnby, Elizabeth;
MacGregor, Gordon

Publication type:

Article

Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification.

Published in:

Indian Journal of Dermatology, Venereology & Leprology, 2015, v. 81, n. 3, p. 303, doi. 10.4103/0378-6323.152744

By:

Tekin, Burak;
Yucelten, Deniz;
Zeybek, Cigdem A.;
Kiykim, Ertugrul;
Wehner, Maria;
Betz, Regina C.;
Toker, Ayse E.

Publication type:

Article

Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1.

Published in:

PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185342

By:

van Ginkel, Willem G.;
van Vliet, Danique;
Burgerhof, Johannes G. M.;
de Blaauw, Pim;
Rubio Gozalbo, M. Estela;
Heiner-Fokkema, M. Rebecca;
van Spronsen, Francjan J.

Publication type:

Article

Simple and Fast Quantification of Nitisone (NTBC) using Liquid Chromatography–Tandem Mass Spectrometry Method in Plasma of Tyrosinemia Type 1 Patients.

Published in:

Journal of Chromatographic Science, 2012, v. 50, n. 5, p. 446, doi. 10.1093/chromsci/bms022

By:

Davit-Spraul, Anne;
Romdhane, Houda;
Poggi-Bach, Joséphine

Publication type:

Article

Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1.

Published in:

Science Translational Medicine, 2016, v. 8, n. 349, p. 1, doi. 10.1126/scitranslmed.aaf3838

By:

Hickey, Raymond D.;
Mao, Shennen A.;
Glorioso, Jaime;
Elgilani, Faysal;
Amiot, Bruce;
Chen, Harvey;
Rinaldo, Piero;
Marler, Ronald;
Huailei Jiang;
DeGrado, Timothy R.;
Suksanpaisan, Lukkana;
O’Connor, Michael K.;
Freeman, Brittany L.;
Ibrahim, Samar H.;
Kah Whye Peng;
Harding, Cary O.;
Chak-Sum Ho;
Grompe, Markus;
Yasuhiro Ikeda;
Lillegard, Joseph B.

Publication type:

Article

Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2.

Published in:

2018

By:

Mohite, Ajay;
Abbott, Joseph

Publication type:

journal article

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.

Published in:

Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/428075

By:

Sheth, Jayesh J.;
Ankleshwaria, Chitra M.;
Pawar, Rajeshwari;
Sheth, Frenny J.

Publication type:

Article

Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 59, doi. 10.3390/ijns10030059

By:

Cavan, Barbra Charina V.;
de Castro-Hamoy, Leniza G.;
Abarquez, Conchita G.;
Maceda, Ebner Bon G.;
Alcausin, Maria Melanie Liberty B.

Publication type:

Article

一例酪氨酸血症患儿的临床特征及相关致病基因分析.

Published in:

Progress in Modern Biomedicine, 2016, v. 16, n. 5, p. 816, doi. 10.13241/j.cnki.pmb.2016.05.004

By:

李景仪;
吴元明;
杨颖;
孙茂;
吴礼安;
贺春霞

Publication type:

Article

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

Published in:

Balkan Medical Journal, 2016, v. 33, n. 3, p. 370, doi. 10.5152/balkanmedj.2016.141074

By:

Koç Uçar, Habibe;
Tümgör, Gökhan;
Kör, Deniz;
Kardaş, Fatih;
Önenli Mungan, Neslihan

Publication type:

Article

Neonatal hyperinsulinism in transient and classical forms of tyrosinemia.

Published in:

2021

By:

Sethuram, Swathi;
Sperling, Mark A.;
Gujral, Jasmine;
Romero, Christopher J.

Publication type:

journal article

Failure to Thrive and Short-term Survival of Liver Transplant Recipients with Tyrosinemia.

Published in:

International Journal of Organ Transplantation Medicine, 2023, v. 14, n. 3, p. 27

By:

Entezari, M.;
Hosseini, S. A. Malek;
Soltani, H. R.;
Nikeghbalian, S.;
Neshan, M.

Publication type:

Article

Clinical practice. NTBC therapy for tyrosinemia type 1: how much is enough?

Published in:

2010

By:

El-Karaksy, Hanaa;
Rashed, Mohmmad;
El-Sayed, Rokaya;
El-Raziky, Mona;
El-Koofy, Nehal;
El-Hawary, Manal;
Al-Dirbashi, Osama

Publication type:

journal article

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

Published in:

Clinical Medicine Insights: Pediatrics, 2024, p. 1, doi. 10.1177/11795565241236176

By:

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

Publication type:

Article

Autism Symptoms Related to Tyrosinemia Type III: A Case Report.

Published in:

Turkish Journal of Endocrinology & Metabolism, 2008, v. 12, n. 2, p. 55

By:

Tahiroğlu, Ayşegül Yolga;
Mungan, Neslihan Önemli;
Fırat, Sunay;
Avcı, Ayşe

Publication type:

Article

Consenso mexicano de tirosinemia tipo 1.

Published in:

Boletín Médico del Hospital Infantil de México, 2024, v. 81, p. 1

By:

Zárate-Mondragón, Flora E.;
Alcántara-García, Renata I.;
Belmont-Martínez, Leticia;
Consuelo-Sánchez, Alejandra;
Fernández-Hernández, Liliana;
Flores-Calderón, Judith;
González-Ortiz, Beatriz;
Guillén-López, Sara;
Hernández-Chávez, Elizabeth;
Hernández-Vez, Gabriela;
López-Mejía, Lizbeth;
Ignorosa-Arellano, Karen R.;
Medina-Vega, Francisco A.;
Reyes-Apodaca, Magali;
Yokoyama-Rebollar, Emiy;
Vela-Amieva, Marcela

Publication type:

Article

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

Published in:

Medicina (1010660X), 2024, v. 60, n. 1, p. 135, doi. 10.3390/medicina60010135

By:

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

Publication type:

Article

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

Published in:

2025

By:

Rouhafshari, Mahsa;
Hadi Imanieh, Mohammad;
Khazaei, Mahdi;
Radaei, Zahra;
Barzegar, Hamide

Publication type:

Case Study

Hepatocellular carcinoma requiring liver transplantation in hereditary tyrosinemia type 1 despite nitisinone therapy and α1‐fetoprotein normalization.

Published in:

Pediatric Transplantation, 2022, v. 26, n. 7, p. 1, doi. 10.1111/petr.14334

By:

Bhushan, Shreya;
Noble, Charlton;
Balouch, Fariha;
Lewindon, Peter;
Lampe, Guy;
Hodgkinson, Peter;
McGill, Jim;
Ee, Looi

Publication type:

Article

Oxidative Stress Associated With Increased Reactive Nitrogen Species Generation in the Liver and Kidney Caused by a Major Metabolite Accumulating in Tyrosinemia Type 1.

Published in:

Cell Biochemistry & Function, 2024, v. 42, n. 8, p. 1, doi. 10.1002/cbf.70010

By:

Bender, Julia Gabrieli;
Ribeiro, Rafael Teixeira;
Zemniaçak, Ângela Beatris;
Palavro, Rafael;
Marschner, Rafael Aguiar;
Wajner, Simone Magagnin;
Castro, Ediandra Tissot;
Leipnitz, Guilhian;
Wajner, Moacir;
Amaral, Alexandre Umpierrez

Publication type:

Article

Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia.

Published in:

Iranian Journal of Child Neurology, 2017, v. 11, n. 4, p. 66

By:

HONAR, Naser;
SHAKIBAZAD, Nader;
SERATI SHIRAZI, Zahra;
DEHGHANI, Seyed Mohsen;
INALOO, Soroor

Publication type:

Article

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

Published in:

2022

By:

Beyzaei, Zahra;
Nabavizadeh, Sara;
Karimzadeh, Sara;
Geramizadeh, Bita

Publication type:

journal article

Antioxidants Reverse the Changes in the Cholinergic System Caused by L-Tyrosine Administration in Rats.

Published in:

Neurotoxicity Research, 2018, v. 34, n. 4, p. 769, doi. 10.1007/s12640-018-9866-6

By:

Gomes, Lara M.;
Scaini, Giselli;
Carvalho-Silva, Milena;
Gomes, Maria L.;
Malgarin, Fernanda;
Kist, Luiza W.;
Bogo, Maurício R.;
Rico, Eduardo Pacheco;
Zugno, Alexandra I.;
Deroza, Pedro F. P.;
Réus, Gislaine Z.;
de Moura, Airam B.;
Quevedo, João;
Ferreira, Gustavo C.;
Schuck, Patrícia F.;
Streck, Emilio L.

Publication type:

Article

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

Published in:

Genetics, 2024, v. 228, n. 2, p. 1, doi. 10.1093/genetics/iyae139

By:

Rivest, Jean-François;
Carter, Sophie;
Goupil, Claudia;
Antérieux, Pénélope;
Cyr, Denis;
Ung, Roth-Visal;
Soglio, Dorothée Dal;
Mac-Way, Fabrice;
Waters, Paula J;
Paganelli, Massimiliano;
Doyon, Yannick

Publication type:

Article

Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation.

Published in:

Pediatrics International, 2016, v. 58, n. 10, p. 1069, doi. 10.1111/ped.13062

By:

Gokay, Songul;
Kendirci, Mustafa;
Ustkoyuncu, Pembe Soylu;
Kardas, Fatih;
Bayram, Ayse Kacar;
Per, Hüseyin;
Poyrazoğlu, Hatice Gamze

Publication type:

Article

Living‐donor liver transplantation for children with tyrosinemia type I.

Published in:

Journal of Digestive Diseases, 2020, v. 21, n. 3, p. 189, doi. 10.1111/1751-2980.12846

By:

Liu, Yuan;
Luo, Yi;
Xia, Lei;
Qiu, Bi Jun;
Zhou, Tao;
Feng, Ming Xuan;
Xue, Feng;
Chen, Xiao Song;
Han, Lian Shu;
Zhang, Jian Jun;
Xia, Qiang

Publication type:

Article

l-Tyrosine Induces DNA Damage in Brain and Blood of Rats.

Published in:

Neurochemical Research, 2014, v. 39, n. 1, p. 202, doi. 10.1007/s11064-013-1207-9

By:

Prá, Samira;
Ferreira, Gabriela;
Carvalho-Silva, Milena;
Vieira, Júlia;
Scaini, Giselli;
Leffa, Daniela;
Fagundes, Gabriela;
Bristot, Bruno;
Borges, Gabriela;
Ferreira, Gustavo;
Schuck, Patrícia;
Andrade, Vanessa;
Streck, Emilio

Publication type:

Article

Effect of Acute Administration of l-Tyrosine on Oxidative Stress Parameters in Brain of Young Rats.

Published in:

Neurochemical Research, 2013, v. 38, n. 12, p. 2625, doi. 10.1007/s11064-013-1180-3

By:

Macêdo, Livia G. R. P.;
Carvalho-Silva, Milena;
Ferreira, Gabriela K.;
Vieira, Júlia S.;
Olegário, Natália;
Gonçalves, Renata C.;
Vuolo, Francieli S.;
Ferreira, Gustavo C.;
Schuck, Patrícia F.;
Dal-Pizzol, Felipe;
Streck, Emilio L.

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2298

By:

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

Publication type:

Article

p-Hydroxyphenylpyruvate Hydroxylase Activity in Fine-Needle Aspiration Liver Biopsies in Hereditary Tyrosinemia.

Published in:

Scandinavian Journal of Clinical & Laboratory Investigation, 1972, v. 29, n. 1, p. 115, doi. 10.3109/00365517209081063

By:

Gentz, J.;
Lindblad, B.

Publication type:

Article

Heat Shock Response Associated with Hepatocarcinogenesis in a Murine Model of Hereditary Tyrosinemia Type I.

Published in:

Cancers, 2014, v. 6, n. 2, p. 998, doi. 10.3390/cancers6020998

By:

Angileri, Francesca;
Morrow, Geneviève;
Roy, Vincent;
Orejuela, Diana;
Tanguay, Robert M.

Publication type:

Article

Coexistence of phenylketonuria and tyrosinemia type 3: challenges in the dietary management.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2025, v. 38, n. 3, p. 292, doi. 10.1515/jpem-2024-0378

By:

Selamioğlu, Arzu;
Kozanoğlu, Tuğba;
Hacıoğlu, İlknur;
Balcı, Mehmet Cihan;
Karaca, Meryem;
Gedikbaşı, Asuman;
Uyanık, Bülent;
Gökçay, Gülden

Publication type:

Article