Works matching Tyrosinemia type I

Results: 103

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

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

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

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

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

Published in:

Journal of Pediatric Research, 2018, v. 5, p. 57, doi. 10.4274/jpr42275

By:

Yazıcı, Havva;
Canda, Ebru;
Er, Esra;
Kılınç, Mehmet Arda;
Uçar, Sema Kalkan;
Karapınar, Bülent;
Çoker, Mahmut

Publication type:

Article

Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1789, doi. 10.3390/ijms22041789

By:

Gil-Martínez, Jon;
Macias, Iratxe;
Unione, Luca;
Bernardo-Seisdedos, Ganeko;
Lopitz-Otsoa, Fernando;
Fernandez-Ramos, David;
Lain, Ana;
Sanz-Parra, Arantza;
Mato, José M;
Millet, Oscar;
Kang, Congbao

Publication type:

Article

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2136, doi. 10.3390/ijms21062136

By:

Balestra, Dario;
Scalet, Daniela;
Ferrarese, Mattia;
Lombardi, Silvia;
Ziliotto, Nicole;
C. Croes, Chrystal;
Petersen, Naomi;
Bosma, Piter;
Riccardi, Federico;
Pagani, Franco;
Pinotti, Mirko;
van de Graaf, Stan F. J.

Publication type:

Article

Simultaneous succinylacetone-nitisinone measurement in tyrosinemia type I patients and evaluation of the nitisinone therapeutic range.

Published in:

Biochimica Clinica, 2023, v. 47, n. 4, p. 340, doi. 10.19186/BC_2023.063

By:

Öktem, Rıdvan Murat;
İInci, Aslì;
Biberoglu, Gürsel;
Okur, Ilyas;
Ezgü, Fatih Süheyl;
Tümer, Leyla

Publication type:

Article

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

Liver transplantation for hereditary tyrosinemia type I: Analysis of the UNOS database.

Published in:

Pediatric Transplantation, 2011, v. 15, n. 4, p. 400, doi. 10.1111/j.1399-3046.2011.01497.x

By:

Arnon, Ronen;
Annunziato, Rachel;
Miloh, Tamir;
Wasserstein, Melissa;
Sogawa, Hiroshi;
Wilson, Monique;
Suchy, Frederick;
Kerkar, Nanda

Publication type:

Article

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 1, p. 69

By:

St-Louis, Maryse;
Leclerc, Barbara;
Laine, Jarmo;
K.Salo, Matti;
Holmberg, Chrlster;
Tanguay, Robert M.

Publication type:

Article

405. Correction of the Murine Model of Hereditary Tyrosinemia Type I Using Messenger RNA as a Source of Transposase for Sleeping Beauty Mediated Integration of the FAH Gene.

Published in:

Molecular Therapy, 2006, v. 13, p. S155, doi. 10.1016/j.ymthe.2006.08.468

By:

Wilber, Andrew;
Wangensteen, Kirk J.;
Yixin Chen;
Lijuan Zhou;
Frandsen, Joel L.;
Bell, Jason;
Zongyu Chen;
Ekker, Stephen C.;
McIvor, R. Scott;
Xin Wang

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

Current Strategies for the Treatment of Hereditary Tyrosinemia Type I.

Published in:

Pediatric Drugs, 2006, v. 8, n. 1, p. 47, doi. 10.2165/00148581-200608010-00004

By:

Ashorn, Merja;
Pitkänen, Sari;
Salo, Matti K.;
Heikinheimo, Markku

Publication type:

Article

Carnitine-Deficient Myopathy as a Presentation of Tyrosinemia Type I.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 9, p. 642, doi. 10.1177/088307380101600903

By:

Nissenkorn, Andrea;
Korman, Stanley H.;
Vardi, Orna;
Levine, Arie;
Katzir, Zeev;
Ballin, Ami;
Lerman-Sagie, Tally

Publication type:

Article

Lectin-reactive α-Fetoprotein in Patients with Tyrosinemia Type I and Hepatocellular Carcinoma.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 2006, v. 43, n. 1, p. 77, doi. 10.1097/01.mpg.0000228112.29359.f8

By:

Ulrich Baumann

Publication type:

Article

Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I.

Published in:

Nutrients, 2021, v. 13, n. 9, p. 3224, doi. 10.3390/nu13093224

By:

Daly, Anne;
Evans, Sharon;
Pinto, Alex;
Ashmore, Catherine;
MacDonald, Anita

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

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

Published in:

Human Mutation, 2016, v. 37, n. 10, p. 1097, doi. 10.1002/humu.23047

By:

Blackburn, Patrick R.;
Hickey, Raymond D.;
Nace, Rebecca A.;
Giama, Nasra H.;
Kraft, Daniel L.;
Bordner, Andrew J.;
Chaiteerakij, Roongruedee;
McCormick, Jennifer B.;
Radulovic, Maja;
Graham, Rondell P.;
Torbenson, Michael S.;
Tortorelli, Silvia;
Scott, C. Ronald;
Lindor, Noralane M.;
Milliner, Dawn S.;
Oglesbee, Devin;
Al‐Qabandi, Wafa'a;
Grompe, Markus;
Gavrilov, Dimitar K.;
El‐Youssef, Mounif

Publication type:

Article

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.

Published in:

Human Mutation, 2002, v. 20, n. 3, p. 180, doi. 10.1002/humu.10084

By:

Arranz, J.A.;
Piñol, F.;
Kozak, L.;
Pérez-Cerdá, C.;
Cormand, B.;
Ugarte, M.;
Riudor, E.

Publication type:

Article

Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.

Published in:

Human Mutation, 2002, v. 19, n. 1, p. 80, doi. 10.1002/humu.9001

By:

Elpeleg, Orly N.;
Shaag, Avraham;
Holme, Elizabeth;
Zughayar, Ghaleb;
Ronen, Suzi;
Fisher, Drora;
Hurvitz, Haggit

Publication type:

Article

Tyrosinemia type I: long-term outcome in a patient treated with doses of NTBC lower than recommended.

Published in:

2011

By:

D'Eufemia, Patrizia;
Celli, Mauro;
Tetti, Martina;
Finocchiaro, Roberto

Publication type:

Letter

NMR and DFT calculation study on structures of 2-[2-nitro-4-(trifluoromethyl)benzoyl]cyclohexane-1,3-dione (NTBC) and its two metabolites isolated from urine of patients suffering from tyrosinemia type I.

Published in:

Journal of Physical Organic Chemistry, 2011, v. 24, n. 3, p. 249, doi. 10.1002/poc.1736

By:

Gryff‐Keller, Adam;
Szczeciński, Przemysław;
Kraska‐Dziadecka, Anna

Publication type:

Article

Two Novel FAH Gene Mutations in a Patient with Hereditary Tyrosinemia Type I.

Published in:

Annals of Clinical & Laboratory Science, 2014, v. 44, n. 3, p. 317

By:

Hyun-Jung Choi;
Hae In Bang;
Chang-Seok Ki;
Soo-Youn Lee;
Jong-Won Kim;
Junghan Song;
Mee-Ran Shin;
Yong-Wha Lee;
Dong Hwan Lee;
Hyung-Doo Park

Publication type:

Article

The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs.

Published in:

Rapid Communications in Mass Spectrometry: RCM, 2008, v. 22, n. 6, p. 812, doi. 10.1002/rcm.3428

By:

la Marca, Giancarlo;
Malvagia, Sabrina;
Pasquini, Elisabetta;
Innocenti, Marzia;
Fernandez, Maira Rebollido;
Donati, Maria Alice;
Zammarchi, Enrico

Publication type:

Article

First-trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination.

Published in:

Prenatal Diagnosis, 1990, v. 10, n. 2, p. 133, doi. 10.1002/pd.1970100210

By:

Jakobs, C.;
Stellaard, F.;
Kvittingen, E. A.;
Henderson, M.;
Lilford, R.

Publication type:

Article

A novel homozygous mutation causing hereditary tyrosinemia type I in Yakut patient in Russia: Case report.

Published in:

Wiadomości Lekarskie, 2016, v. 69, n. 2, Part 2, p. 295

By:

Maksimova, Nadezda R.;
Gurinova, Elizaveta E.;
Sukhomyasova, Aitalina L.;
Danilova, Anastasia L.;
Kaimonov, Vladimir S.;
Savvina, Mira T.;
Yakovleva, Aleksandra E.;
Alekseeva, Elena I.

Publication type:

Article

A novel homozygous mutation causing hereditary tyrosinemia type I in Yakut patient in Russia: Case report.

Published in:

Wiadomości Lekarskie, 2016, v. 69, n. 2, Part 1, p. 295

By:

Maksimova, Nadezda R.;
Gurinova, Elizaveta E.;
Sukhomyasova, Aitalina L.;
Danilova, Anastasia L.;
Kaimonov, Vladimir S.;
Savvina, Mira T.;
Yakovleva, Aleksandra E.;
Alekseeva, Elena I.

Publication type:

Article

Phenotypic characteristics of a tyrosinemia type I: an Egyptian cohort.

Published in:

QJM: An International Journal of Medicine, 2018, v. 111, p. N.PAG, doi. 10.1093/qjmed/hcy200.165

By:

Abdelghaffar, T Y;
Elsayed, S;
Elnaghi, S;
Helmy, S

Publication type:

Article

Dendrimer‐Based Lipid Nanoparticles Deliver Therapeutic FAH mRNA to Normalize Liver Function and Extend Survival in a Mouse Model of Hepatorenal Tyrosinemia Type I.

Published in:

Advanced Materials, 2018, v. 30, n. 52, p. N.PAG, doi. 10.1002/adma.201805308

By:

Cheng, Qiang;
Wei, Tuo;
Jia, Yuemeng;
Farbiak, Lukas;
Zhou, Kejin;
Zhang, Shuyuan;
Wei, Yonglong;
Zhu, Hao;
Siegwart, Daniel J.

Publication type:

Article

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

Published in:

Scientific Reports, 2016, p. 31460, doi. 10.1038/srep31460

By:

Zhang, Ludi;
Shao, Yanjiao;
Li, Lu;
Tian, Feng;
Cen, Jin;
Chen, Xiaotao;
Hu, Dan;
Zhou, Yan;
Xie, Weifen;
Zheng, Yunwen;
Ji, Yuan;
Liu, Mingyao;
Li, Dali;
Hui, Lijian

Publication type:

Article

Two novel mutations involved in hereditary tyrosinemia type I.

Published in:

Human Molecular Genetics, 1995, v. 4, n. 2, p. 319

By:

St-Louis, Maryse;
Poudrier, Jacques;
Phaneuf, Daniel;
Lecierc, Barbara;
Laframboise, Rachel;
Tanguay, Robert M.

Publication type:

Article

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

Published in:

Annals of Hepatology: Official Journal of the Mexican Association of Hepatology, 2014, v. 13, n. 2, p. 265, doi. 10.1016/s1665-2681(19)30890-7

By:

Fernández-Lainez, Cynthia;
Ibarra-Gonzále, Isabel;
Belmont-Martínez, Leticia;
Monroy-Santoy, Susana;
Guillén-López, Sara;
Vela-Amieva, Marcela

Publication type:

Article

A novel mutation causing mild, atypical fumarylacetoacetasedeficiency (Tyrosinemia type I): a case report.

Published in:: Orphanet Journal of Rare Diseases, 2009, v. 4, p. 28, doi. 10.1186/1750-1172-4-28
Publication type:: Article

Tyrosinemia type I--diagnostic issues and prenatal diagnosis.

Published in:

2006

By:

Bijarnia S;
Puri RD;
Ruel J;
Gray GF;
Jenkinson L;
Verma IC;
Bijarnia, Sunita;
Puri, Ratna D;
Ruel, Jean;
Gray, George F;
Jenkinson, Linda;
Verma, Ishwar C

Publication type:

journal article

Tyrosinemia type I—Diagnostic issues and prenatal diagnosis.

Published in:

Indian Journal of Pediatrics, 2006, v. 73, n. 2, p. 163, doi. 10.1007/BF02820214

By:

Bijarnia, Sunita;
Puri, Ratna;
Ruel, Jean;
Gray, George;
Jenkinson, Linda;
Verma, Ishwar

Publication type:

Article

Tyrosinemia type I: a clinico-laboratory case report.

Published in:

2004

By:

Karnik, Deepali;
Thomas, Niranjan;
Eapen, C.;
Jana, A.;
Oommen, A.;
Eapen, C E;
Jana, A K

Publication type:

journal article

Tyrosinemia type I and not treatment with NTBC causes slower learning and altered behavior in mice.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 673, doi. 10.1007/s10545-016-9949-6

By:

Hillgartner, Megan;
Coker, Sarah;
Koenig, Ashton;
Moore, Marissa;
Barnby, Elizabeth;
MacGregor, Gordon

Publication type:

Article

Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 773, doi. 10.1007/s10545-012-9556-0

By:

Bliksrud, Yngve;
Ellingsen, Amund;
Bjørås, Magnar

Publication type:

Article

Single dose NTBC-treatment of hereditary tyrosinemia type I.

Published in:

Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 831, doi. 10.1007/s10545-012-9450-9

By:

Schlune, A.;
Thimm, E.;
Herebian, D.;
Spiekerkoetter, U.

Publication type:

Article

Maternal and fetal tyrosinemia type I.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 507, doi. 10.1007/s10545-012-9569-8

By:

Garcia Segarra, N.;
Roche, S.;
Imbard, A.;
Benoist, J. F.;
Grenèche, M. O.;
Davit‐Spraul, A.;
Ogier de Baulny, H.

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

Messenger RNA as a Source of Transposase for Sleeping Beauty Transposon–mediated Correction of Hereditary Tyrosinemia Type I.

Published in:

Molecular Therapy, 2007, v. 15, n. 7, p. 1280, doi. 10.1038/sj.mt.6300160

By:

Wilber, Andrew;
Wangensteen, Kirk J.;
Yixin Chen;
Lijuan Zhuo;
Frandsen, Joel L.;
Bell, Jason B.;
Chen, Zongyu J.;
Ekker, Stephen C.;
McIvor, R Scott;
Xin Wang

Publication type:

Article

In Vivo Correction of Murine Hereditary Tyrosinemia Type I by ϕC31 Integrase-Mediated Gene Delivery

Published in:

Molecular Therapy, 2005, v. 11, n. 3, p. 399, doi. 10.1016/j.ymthe.2004.11.001

By:

Held, Patrice K.;
Olivares, Eric C.;
Aguilar, Christina P.;
Finegold, Milton;
Calos, Michele P.;
Grompe, Markus

Publication type:

Article

In Vivo Correction of Murine Tyrosinemia Type I by DNA-Mediated Transposition

Published in:

Molecular Therapy, 2002, v. 6, n. 6, p. 759, doi. 10.1006/mthe.2002.0812

By:

Montini, Eugenio;
Held, Patrice K.;
Noll, Meenakshi;
Morcinek, Nicolas;
Al-Dhalimy, Muhsen;
Finegold, Milton;
Yant, Stephen R.;
Kay, Mark A.;
Grompe, Markus

Publication type:

Article

Hepatocellular carcinoma in hereditary tyrosinemia type I despite 2-(2 nitro-4-3 trifluoro- methylbenzoyl)-1, 3-cyclohexanedione treatment.

Published in:

2005

By:

van Spronsen, Francjan J.;
Bijleveld, Charles M. A.;
van Maldegem, Bianca T.;
Wijburg, Frits A.

Publication type:

journal article

Serum type III procollagen in children with type I hereditary tyrosinemia.

Published in:

1999

By:

Pitkänen, Sari;
Salo, Matti K.;
Vettenranta, Kim;
Näntö-Salonen, Kirsti;
Heikinheimo, Markku;
Pitkänen, S;
Salo, M K;
Vettenranta, K;
Näntö-Salonen, K;
Heikinheimo, M

Publication type:

journal article

HEREDITARY TYROSINEMIA TYPE I.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 1991, v. 13, n. 3, p. 322

By:

van Spronsen, F. J.;
Thomassen, Y.;
Berger, R.;
Smit, G. P.A.;
Heymans, H. S.A.

Publication type:

Article

Early liver transplantation is indicated for tyrosinemia type I.

Published in:

1991

By:

Freese, Deborah K.;
Tuchman, Mendel;
Schwarzenberg, Sarah J.;
Sharp, Harvey L.;
Rank, Jeffrey M.;
Bloomer, Joseph R.;
Ascher, Nancy L.;
Payne, William D.;
Freese, D K;
Tuchman, M;
Schwarzenberg, S J;
Sharp, H L;
Rank, J M;
Bloomer, J R;
Ascher, N L;
Payne, W D

Publication type:

journal article

An acute form of tyrosinemia type I with multiple intrahepatic mass lesions.

Published in:

1990

By:

Tazawa, Yusaku;
Kikuchi, Masahiro;
Kurobane, Ikuo;
Watanabe, Ayako;
Nakai, Hiroshi;
Narisawa, Kuniaki;
Tada, Keiya;
Tazawa, Y;
Kikuchi, M;
Kurobane, I;
Watanabe, A;
Nakai, H;
Narisawa, K;
Tada, K

Publication type:

journal article