Works matching DE "TYROSINEMIA"

Results: 52

Technology: In vivo correction of genetic disease in adult mice.

Published in:

Nature Reviews Genetics, 2014, v. 15, n. 5, p. 291, doi. 10.1038/nrg3731

By:

Burgess, Darren J.

Publication type:

Article

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

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

CRISPR technology for gene therapy.

Published in:: Nature Medicine, 2014, v. 20, n. 5, p. 476, doi. 10.1038/nm.3566
Publication type:: Article

Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs.

Published in:

Turkish Journal of Pediatrics, 2012, v. 54, n. 4, p. 409, doi. 10.24953/turkjped.2012.1657

By:

Ünal, Özlem;
Öztürk-Hişmi, Burcu;
Coşkun, Turgay;
Tokatlı, Ayşegül;
Dursun, Ali;
Sivri, Hatice Serap

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

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

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

Tyrosine impairs enzymes of energy metabolism in cerebral cortex of rats.

Published in:

Molecular & Cellular Biochemistry, 2012, v. 364, n. 1/2, p. 253, doi. 10.1007/s11010-012-1225-y

By:

Andrade, Rodrigo;
Gemelli, Tanise;
Rojas, Denise;
Funchal, Cláudia;
Dutra-Filho, Carlos;
Wannmacher, Clovis

Publication type:

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

Nitisinone-Induced Keratopathy in Alkaptonuria Disease: A Case Report and Literature Review.

Published in:

Journal of Clinical & Diagnostic Research, 2018, v. 12, n. 6, p. 1, doi. 10.7860/JCDR/2018/35741.11629

By:

ZUBI, KHALID MOUSA AL;
ALSBOU, MOHAMMED SALEM;
ALKHASAWNEH, MAHMOUD HUSSEIN;
AL-SHAGAHIN, HANI MOSLEH

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

HIV Tat Impairs Neurogenesis through Functioning As a Notch Ligand and Activation of Notch Signaling Pathway.

Published in:

Journal of Neuroscience, 2016, v. 36, n. 44, p. 11362, doi. 10.1523/JNEUROSCI.1208-16.2016

By:

Yan Fan;
Xiang Gao;
Jinhui Chen;
Ying Liu;
He, Johnny J.

Publication type:

Article

Effect of Mifepristone on Glucocorticoid Receptor Gene Expression in the Liver of Rats with Streptozotocin-Induced Diabetes.

Published in:

Bulletin of Experimental Biology & Medicine, 2013, v. 156, n. 2, p. 177, doi. 10.1007/s10517-013-2304-0

By:

Selyatitskaya, V.;
Pal'chikova, N.;
Gerbek, Yu.;
Kuznetsova, N.

Publication type:

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

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

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

Effect of Acute and Chronic Administration of l-Tyrosine on Nerve Growth Factor Levels in Rat Brain.

Published in:

Neurochemical Research, 2013, v. 38, n. 8, p. 1742, doi. 10.1007/s11064-013-1078-0

By:

Ferreira, Gabriela;
Jeremias, Isabela;
Scaini, Giselli;
Carvalho-Silva, Milena;
Gomes, Lara;
Furlanetto, Camila;
Morais, Meline;
Schuck, Patrícia;
Ferreira, Gustavo;
Streck, Emilio

Publication type:

Article

Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.

Published in:

2017

By:

Osara, Yetsa;
Coakley, Kathryn;
Devarajan, Aishwarya;
Singh, Rani H.

Publication type:

journal 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

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

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0159-8

By:

Zeltner, Nina A.;
Huemer, Martina;
Baumgartner, Matthias R.;
Landolt, Markus A.

Publication type:

Article

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0107-7

By:

Mayorandan, Sebene;
Meyer, Uta;
Gokcay, Gülden;
Segarra, Nuria Garcia;
de Baulny, Hélène Ogier;
van Spronsen, Francjan;
Zeman, Jiri;
de Laet, Corinne;
Spiekerkoetter, Ute;
Thimm, Eva;
Maiorana, Arianna;
Dionisi-Vici, Carlo;
Moeslinger, Dorothea;
Brunner-Krainz, Michaela;
Lotz-Havla, Amelie Sophia;
Cocho de Juan, José Angel;
Couce Pico, Maria Luz;
Santer, René;
Scholl-Bürgi, Sabine;
Mandel, Hanna

Publication type:

Article

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

Mapping N- and C-terminals of Leishmania donovani tyrosine aminotransferase by gene truncation strategy: a functional study using in vitro and in silico approaches.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69512-y

By:

Sasidharan, Santanu;
Saudagar, Prakash

Publication type:

Article

Rosmarinic Acid Production and Expression of Tyrosine Aminotransferase Gene in Melissa officinalis Seedlings in Response to Yeast Extract.

Published in:

Journal of Agricultural Science & Technology, 2014, v. 16, n. 4, p. 921

By:

Nasiri-Bezenjani, M. A.;
Riahi-Madvar, A.;
Baghizadeh, A.;
Ahmadi, A. R.

Publication type:

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

Predicting tyrosinaemia: a mathematical model of 4-hydroxyphenylpyruvate dioxygenase inhibition by nitisinone in rats.

Published in:

Mathematical Medicine & Biology: A Journal of the IMA, 2017, v. 34, n. 3, p. 335, doi. 10.1093/imammb/dqw006

By:

WARD, JOHN P.;
DUNSTER, JOANNE L.;
DERKS, GIANNE;
MISTRY, PRATIBHA;
SALAZAR, JOSÉ D.

Publication type:

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

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

Renewable Surface Carbon-composite Electrode Bulk Modified with GQD-RuCl<sub>3</sub> Nano-composite for High Sensitive Detection of l-tyrosine.

Published in:

Electroanalysis, 2016, v. 28, n. 10, p. 2559, doi. 10.1002/elan.201600010

By:

Habibi, Esmaeil;
Heidari, Hassan

Publication type:

Article

A robust bacterial assay for high-throughput screening of human 4-hydroxyphenylpyruvate dioxygenase inhibitors.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50533-1

By:

Neuckermans, Jessie;
Mertens, Alan;
De Win, Dinja;
Schwaneberg, Ulrich;
De Kock, Joery

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

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

3D Pharmacophore-Based Virtual Screening and Docking Approaches toward the Discovery of Novel HPPD Inhibitors.

Published in:

Molecules, 2017, v. 22, n. 6, p. 959, doi. 10.3390/molecules22060959

By:

Ying Fu;
Yi-Na Sun;
Ke-Han Yi;
Ming-Qiang Li;
Hai-Feng Cao;
Jia-Zhong Li;
Fei Ye

Publication type:

Article

Structure of tyrosine aminotransferase from Leishmania infantum.

Published in:

Acta Crystallographica: Section F, Structural Biology Communications, 2014, v. 70, n. 5, p. 583, doi. 10.1107/S2053230X14007845

By:

Moreno, M. A.;
Abramov, A.;
Abendroth, J.;
Alonso, A.;
Zhang, S.;
Alcolea, P. J.;
Edwards, T.;
Lorimer, D.;
Myler, P. J.;
Larraga, V.

Publication type:

Article

Insights into HIV-1 proviral transcription from integrative structure and dynamics of the Tat:AFF4:P-TEFb:TAR complex.

Published in:

eLife, 2016, p. 1, doi. 10.7554/eLife.15910

By:

Schulze-Gahmen, Ursula;
Echeverria, Ignacia;
Stjepanovic, Goran;
Yun Bai;
Huasong Lu;
Schneidman-Duhovny, Dina;
Doudna, Jennifer A.;
Qiang Zhou;
Sali, Andrej;
Hurley, James H.

Publication type:

Article

Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype.

Published in:

Nature Biotechnology, 2014, v. 32, n. 6, p. 551, doi. 10.1038/nbt.2884

By:

Yin, Hao;
Xue, Wen;
Chen, Sidi;
Bogorad, Roman L;
Benedetti, Eric;
Grompe, Markus;
Koteliansky, Victor;
Sharp, Phillip A;
Jacks, Tyler;
Anderson, Daniel G

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

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

Antioxidants reverse the changes in energy metabolism of rat brain after chronic administration of L.-tyrosine.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 2, p. 557, doi. 10.1007/s11011-016-9936-5

By:

Teodorak, Brena;
Scaini, Giselli;
Carvalho-Silva, Milena;
Gomes, Lara;
Teixeira, Letícia;
Rebelo, Joyce;
De Prá, Samira;
Zeni, Neila;
Schuck, Patrícia;
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