Works matching Fumarylacetoacetase

Results: 24

Recommendations for the management of tyrosinaemia type 1.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-8

By:

de Laet, Corinne;
Dionisi-Vici, Carlo;
Leonard, James V.;
McKiernan, Patrick;
Mitchell, Grant;
Monti, Lidia;
de Baulny, Hélène Ogier;
Pintos-Morell, Guillem;
Spiekerkötter, Ute

Publication type:

Article

Fumarylacetoacetase activity in cultured and non-cultured chorionic villus cells, and assay in two high-risk pregnancies.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 10, p. 807, doi. 10.1002/pd.1970121006

By:

McCormack, M. J.;
Walker, E.;
Gray, R. G.;
Newton, J. R.;
Green, A.

Publication type:

Article

Cultivating the uncultured: growing the recalcitrant cluster-2 Frankia strains.

Published in:

Scientific Reports, 2015, p. 13112, doi. 10.1038/srep13112

By:

Gtari, Maher;
Ghodhbane-Gtari, Faten;
Nouioui, Imen;
Ktari, Amir;
Hezbri, Karima;
Mimouni, Wajdi;
Sbissi, Imed;
Ayari, Amani;
Yamanaka, Takashi;
Normand, Philippe;
Tisa, Louis S;
Boudabous, Abdellatif

Publication type:

Article

Hereditary tyrosinaemia type I in Norway: Incidence and three novel small deletions in the fumarylacetoacetase gene.

Published in:

Scandinavian Journal of Clinical & Laboratory Investigation, 2012, v. 72, n. 5, p. 369, doi. 10.3109/00365513.2012.676210

By:

Bliksrud, Yngve T.;
Brodtkorb, Else;
Backe, Paul H.;
Woldseth, Berit;
Rootwelt, Helge

Publication type:

Article

Generation of integration-free induced hepatocyte-like cells from mouse fibroblasts.

Published in:

Scientific Reports, 2015, p. 15706, doi. 10.1038/srep15706

By:

Kim, Jonghun;
Kim, Kee-Pyo;
Lim, Kyung Tae;
Lee, Seung Chan;
Yoon, Juyong;
Song, Guangqi;
Hwang, Seon In;
Schöler, Hans R.;
Cantz, Tobias;
Han, Dong Wook

Publication type:

Article

Intrablastocyst injection with human CD34<sup>+</sup>/CD133<sup>+</sup> cells increase survival of immunocompetent fumarylacetoacetate hydrolase knockout mice.

Published in:

Laboratory Animals, 2012, v. 46, n. 4, p. 280, doi. 10.1258/la.2012.012038

By:

Marra, Emanuele;
Turrini, Paolo;
Tripodi, Marco;
Ciliberto, Gennaro;
Padron, Julio;
Aurisicchio, Luigi

Publication type:

Article

Sugar suppresses cell death caused by disruption of fumarylacetoacetate hydrolase in Arabidopsis.

Published in:

Planta: An International Journal of Plant Biology, 2016, v. 244, n. 3, p. 557, doi. 10.1007/s00425-016-2530-6

By:

Zhi, Tiantian;
Zhou, Zhou;
Huang, Yi;
Han, Chengyun;
Liu, Yan;
Zhu, Qi;
Ren, Chunmei

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

Deficiency of fumarylacetoacetase without hereditary tyrosinemia.

Published in:

Clinical Genetics, 1985, v. 27, n. 6, p. 550, doi. 10.1111/j.1399-0004.1985.tb02039.x

By:

Kvittingen, E. A.;
Børresen, A. L.;
Stokke, O.;
Hagen, C. B. van der;
Lie, S. O.

Publication type:

Article

Fumarylacetoacetase mutations in tyrosinaemia type I.

Published in:

Human Mutation, 1996, v. 7, n. 3, p. 239, doi. 10.1002/(SICI)1098-1004(1996)7:3<239::AID-HUMU8>3.0.CO;2-5

By:

Rootwelt, Helge;
Høie, Kari;
Berger, Ruud;
Kvittingen, Eli Anne

Publication type:

Article

Disruption of Fumarylacetoacetate Hydrolase Causes Spontaneous Cell Death under Short-Day Conditions in Arabidopsis.

Published in:

Plant Physiology, 2013, v. 162, n. 4, p. 1956, doi. 10.1104/pp.113.216804

By:

Chengyun Han;
Chunmei Ren;
Tiantian Zhi;
Zhou Zhou;
Yan Liu;
Feng Chen;
Wen Peng;
Daoxin Xie

Publication type:

Article

Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 7/8, p. 795, doi. 10.1515/jpem-2013-0489

By:

Haghighi-Kakhki, Hamidreza;
Rezazadeh, Jamileh;
Ahmadi-Shadmehri, Azam

Publication type:

Article

The proteins involved in larval colouration in the cuticle and haemolymph of two strains of Antheraea pernyi (Lepidoptera: Saturniidae).

Published in:

European Journal of Entomology, 2023, v. 120, p. 310, doi. 10.14411/eje.2023.032

By:

GUOBAO WANG;
JIANGRUN WANG;
LEI NIE

Publication type:

Article

The Discovery of the Mode of Action of Nitisinone.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 10, p. 902, doi. 10.3390/metabo12100902

By:

Lock, Edward A.

Publication type:

Article

Adaptation of Phenylalanine and Tyrosine Catabolic Pathway to Hibernation in Bats.

Published in:

PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0062039

By:

Pan, Yi-Hsuan;
Zhang, Yijian;
Cui, Jie;
Liu, Yang;
McAllan, Bronwyn M.;
Liao, Chen-Chung;
Zhang, Shuyi

Publication type:

Article

Changes in the liver mitochondrial proteome after ischemia/reperfusion.

Published in:

FASEB Journal, 2007, v. 21, n. 5, p. A11

By:

Eismann, Thorsten;
Huber, Nadine;
Blanchard, John;
Wyder, Michael;
Greis, Kenneth D.;
Lentsch, Alex B.

Publication type:

Article

Serum proteomic profiling in patients with drug-induced liver injury.

Published in:

Alimentary Pharmacology & Therapeutics, 2012, v. 35, n. 5, p. 600, doi. 10.1111/j.1365-2036.2011.04982.x

By:

Bell, L. N.;
Vuppalanchi, R.;
Watkins, P. B.;
Bonkovsky, H. L.;
Serrano, J.;
Fontana, R. J.;
Wang, M.;
Rochon, J.;
Chalasani, N.

Publication type:

Article

Tandem mass tag-based quantitative proteomic profiling identifies candidate serum biomarkers of drug-induced liver injury in humans.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36858-6

By:

Ravindra, Kodihalli C.;
Vaidya, Vishal S.;
Wang, Zhenyu;
Federspiel, Joel D.;
Virgen-Slane, Richard;
Everley, Robert A.;
Grove, Jane I.;
Stephens, Camilla;
Ocana, Mireia F.;
Robles-Díaz, Mercedes;
Isabel Lucena, M.;
Andrade, Raul J.;
Atallah, Edmond;
Gerbes, Alexander L.;
Weber, Sabine;
Cortez-Pinto, Helena;
Fowell, Andrew J.;
Hussaini, Hyder;
Bjornsson, Einar S.;
Patel, Janisha

Publication type:

Article

Nitisinone in the treatment of hereditary Trosinemia type 1.

Published in:

2006

By:

McKiernan PJ

Publication type:

Journal Article

Nitisinone in the Treatment of Hereditary Tyrosinaemia Type 1.

Published in:

Drugs, 2006, v. 66, n. 6, p. 743, doi. 10.2165/00003495-200666060-00002

By:

McKiernan, Patrick J.

Publication type:

Article

A simple RP-HPLC method for determination of nitisinone in pharmaceuticals.

Published in:

Macedonian Pharmaceutical Bulletin / Makedonsko Farmacevtski Bilten, 2019, v. 65, n. 2, p. 3, doi. 10.33320/10.33320/maced.pharm.bull.2019.65.02.007

By:

Mustafa, Zana;
Arsova-Sarafinovska, Zorica;
Shishovska, Maya;
Grozdanova, Aleksandra

Publication type:

Article

Global transcriptional analysis suggests Lasiodiplodia theobromae pathogenicity factors involved in modulation of grapevine defensive response.

Published in:

BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-2952-3

By:

Paolinelli-Alfonso, Marcos;
Villalobos-Escobedo, José Manuel;
Rolshausen, Philippe;
Herrera-Estrella, Alfredo;
Galindo-Sánchez, Clara;
López-Hernández, José Fabricio;
Hernandez-Martinez, Rufina

Publication type:

Article

Tyrosinaemia type I-de novo mutation in liver tissue suppressing an inborn splicing defect.

Published in:

Journal of Molecular Medicine, 2005, v. 83, n. 5, p. 406, doi. 10.1007/s00109-005-0648-2

By:

Bliksrud, Y.;
Brodtkorb, E.;
Andresen, P.;
Berg, I.;
Kvittingen, E.

Publication type:

Article

In vivo hepatogenic capacity and therapeutic potential of stem cells from human exfoliated deciduous teeth in liver fibrosis in mice.

Published in:

Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13287-015-0154-6

By:

Takayoshi Yamaza;
Alatas, Fatima Safira;
Ratih Yuniartha;
Haruyoshi Yamaza;
Fujiyoshi, Junko K.;
Yusuke Yanagi;
Koichiro Yoshimaru;
Makoto Hayashida;
Toshiharu Matsuura;
Reona Aijima;
Kenji Ihara;
Shouichi Ohga;
Songtao Shi;
Kazuaki Nonaka;
Tomoaki Taguchi

Publication type:

Article