Works matching DE "ORNITHINE carbamoyltransferase deficiency"

Results: 39

Anesthetic implications of ornithine transcarbamylase deficiency.

Published in:

Pediatric Anesthesia, 2010, v. 20, n. 7, p. 666, doi. 10.1111/j.1460-9592.2010.03322.x

By:

DUTOIT, ANDREA P.;
FLICK, RANDALL R.;
SPRUNG, JURAJ;
BABOVIC-VUKSANOVIC, DUSICA;
WEINGARTEN, TOBY N.

Publication type:

Article

Analysis of Pyrimidine Synthesis De Novo Intermediates in Urine During Crisis of a Patient with Ornithine Transcarbamylase Deficiency.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2006, v. 25, n. 9-11, p. 1251, doi. 10.1080/15257770600894634

By:

van Kuilenburg, A.B. P.;
van Maldegem, B.T.;
Abeling, N.G. G. M.;
Wijburg, F.A.;
Duran, M.

Publication type:

Article

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.

Published in:

2010

By:

Ngu Lock Hock;
Yunus, Zabedah Md;
Kobayashi, Keiko

Publication type:

Case Study

Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature.

Published in:

2018

By:

Wang, Furene Sijia;
Goh, Denise Li Meng;
Ong, Hian Tat

Publication type:

journal article

Ornithine Transcarbamylase Deficiency Presenting With Acute Reversible Cortical Blindness.

Published in:

2015

By:

Prasun, Pankaj;
Altinok, Deniz;
Misra, Vinod K.

Publication type:

Case Study

Mitochondrial DNA 8993T>G Mutation in a Child With Ornithine Transcarbamylase Deficiency and Leigh Syndrome: An Unexpected Association.

Published in:

Journal of Child Neurology, 2012, v. 27, n. 8, p. 1059, doi. 10.1177/0883073811431015

By:

Henriques, Margarida;
Diogo, Luísa;
Garcia, Paula;
Pratas, João;
Simões, Marta;
Grazina, Manuela

Publication type:

Article

Osmotic Demyelination Syndrome as a Consequence of Treating Hyperammonemia in a Patient With Ornithine Transcarbamylase Deficiency.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 7, p. 884, doi. 10.1177/0883073808331349

By:

Cardenas, Javier F.;
Bodensteiner, John B.

Publication type:

Article

Mutations.

Published in:: Human Genetics, 2003, v. 113, n. 4, p. 365, doi. 10.1007/s00439-003-0994-5
Publication type:: Article

Mutations.

Published in:: Human Genetics, 2003, v. 113, n. 4, p. 367, doi. 10.1007/s00439-003-0995-4
Publication type:: Article

Urinary uracil in female patients with ornithine transcarbamylase deficiency.

Published in:

Pediatrics International, 2005, v. 47, n. 3, p. 262, doi. 10.1111/j.1442-200x.2005.02063.x

By:

Sumi, Satoshi;
Imaeda, Masayuki;
Ito, Tetsuya;
Ueta, Akihito;
Ban, Kyoko;
Ohkubo, Yumiko;
Togari, Hajime

Publication type:

Article

Severe Hyperammonemia in Late-Onset Ornithine Transcarbamylase Deficiency Triggered by Steroid Administration.

Published in:

Case Reports in Neurological Medicine, 2015, v. 2015, p. 1, doi. 10.1155/2015/453752

By:

Gascon-Bayarri, Jordi;
Campdelacreu, Jaume;
Estela, Jordi;
Reñé, Ramon

Publication type:

Article

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).

Published in:

PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153358

By:

Laemmle, Alexander;
Gallagher, Renata C.;
Keogh, Adrian;
Stricker, Tamar;
Gautschi, Matthias;
Nuoffer, Jean-Marc;
Baumgartner, Matthias R.;
Häberle, Johannes

Publication type:

Article

An 18-Month-Old Child with Ornithine Transcarbamylase Deficiency and a Rash.

Published in:

2011

By:

Foster, Rachael S.;
Halbert, Anne R.

Publication type:

Other

Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical Phenotype.

Published in:

Case Reports in Genetics, 2017, p. 1, doi. 10.1155/2017/1048717

By:

Sánchez, Ana Isabel;
Rincón, Alejandra;
García, Mary;
Suárez-Obando, Fernando

Publication type:

Article

On-off vomiting and altered mentation in a 9-year-old: Avoiding mental block.

Published in:

Contemporary Pediatrics, 2004, v. 21, n. 3, p. 16

By:

Cohen, Joanna;
Huffman, Jennifer;
Chinsky, Jeffrey;
Siberry, George K.

Publication type:

Article

Considerations on urea cycle disorders: a child with ornithine transcarbamylase deficiency.

Published in:

Pediatric Anesthesia & Critical Care Journal (PACCJ), 2016, v. 4, n. 1, p. 28, doi. 10.14587/paccj.2016.6

By:

Bellido, M.;
Perez, M. Gonzalez;
Ruiz, A. Martinez;
Barcelo, I.

Publication type:

Article

Brain images in ornithine transcarbamylase deficiency.

Published in:

Neurology & Clinical Neuroscience, 2016, v. 4, n. 1, p. 36, doi. 10.1111/ncn3.12022

By:

Miura, Ken;
Ikeda, Ken;
Kawabe, Kiyokazu;
Sawada, Masahiro;
Hanashiro, Sayori;
Ito, Hirono;
Iwasaki, Yasuo

Publication type:

Article

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54

By:

Choi, Jin-Ho;
Lee, Beom Hee;
Kim, Ja Hye;
Kim, Gu-Hwan;
Kim, Yoo-Mi;
Cho, Jahyang;
Cheon, Chong-Kun;
Ko, Jung Min;
Lee, Jung Hyun;
Yoo, Han-Wook

Publication type:

Article

Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again.

Published in:

2017

By:

Santos, Christan D.;
Ratzlaff, Robert A.;
Meder, Jennifer C.;
Atwal, Paldeep S.;
Joyce, Nicole E.

Publication type:

Case Study

Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency.

Published in:

Case Reports in Critical Care, 2013, p. 1, doi. 10.1155/2013/493216

By:

Roberts, Daniel L.;
Galbreath, David A.;
Patel, Bhavesh M.;
Ingall, Timothy J.;
Khatib, Amer;
Johnson, Daniel J.

Publication type:

Article

Epilepsy.

Published in:: 2008
Publication type:: Abstract

Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.

Published in:

International Journal of Legal Medicine, 2016, v. 130, n. 3, p. 783, doi. 10.1007/s00414-015-1311-2

By:

Hartung, Benno;
Temme, Oliver;
Neuen-Jacob, Eva;
Ritz-Timme, Stefanie;
Hinderhofer, Katrin;
Daldrup, Thomas

Publication type:

Article

Lethal Hyperammonemia due to Ornithine Transcarbamylase Deficiency in a Patient with Severe Septic Shock.

Published in:

2016

By:

Ji An Hwang;
Joo Han Song;
Young Seok Lee;
Kyung Soo Chung;
Song Yee Kim;
Eun Young Kim;
Ji Ye Jung;
Young Ae Kang;
Young Sam Kim;
Joon Chang;
Moo Suk Park

Publication type:

Case Study

Novel mutation in OTC gene causes neonatal death in twin brothers.

Published in:

Journal of Perinatology, 2007, v. 27, n. 2, p. 123, doi. 10.1038/sj.jp.7211630

By:

Nagy, G. R.;
Largiadèr, C. R.;
Nuoffer, J.-M.;
Nagy, B.;
Lázár, L.;
Papp, Z.

Publication type:

Article

Sustained correction of OTC deficiency in spf<sup> ash</sup> mice using optimized self-complementary AAV2/8 vectors.

Published in:

Gene Therapy, 2012, v. 19, n. 4, p. 404, doi. 10.1038/gt.2011.111

By:

Wang, L;
Wang, H;
Morizono, H;
Bell, P;
Jones, D;
Lin, J;
McMenamin, D;
Yu, H;
Batshaw, M L;
Wilson, J M

Publication type:

Article

In vivo assessment of mutations in OTC for dominant-negative effects following rAAV2/8-mediated gene delivery to the mouse liver.

Published in:

Gene Therapy, 2009, v. 16, n. 6, p. 820, doi. 10.1038/gt.2009.38

By:

Ginn, S. L.;
Cunningham, S. C.;
Zheng, M.;
Spinoulas, A.;
Carpenter, K. H.;
Alexander, I. E.

Publication type:

Article

Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 318, doi. 10.1111/cge.13004

By:

Shao, Y.;
Jiang, M.;
Lin, Y.;
Mei, H.;
Zhang, W.;
Cai, Y.;
Su, X.;
Hu, H.;
Li, X.;
Liu, L.

Publication type:

Article

Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.

Published in:

Clinical Genetics, 2013, v. 84, n. 6, p. 552, doi. 10.1111/cge.12085

By:

Storkanova, G;
Vlaskova, H;
Chuzhanova, N;
Zeman, J;
Stranecky, V;
Majer, F;
Peskova, K;
Luksan, O;
Jirsa, M;
Hrebicek, M;
Dvorakova, L

Publication type:

Article

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

Published in:

Clinical Genetics, 2009, v. 76, n. 3, p. 263, doi. 10.1111/j.1399-0004.2009.01216.x

By:

Klaus, V.;
Vermeulen, T.;
Minassian, B.;
Israelian, N.;
Engel, K.;
Lund, A. M.;
Roebrock, K.;
Christensen, E.;
Häberle, J.

Publication type:

Article

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.

Published in:

2015

By:

Mohamed, Sarar;
Hamad, Muddathir H;
Kondkar, Altaf A;
Abu-Amero, Khaled K

Publication type:

Case Study

Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.

Published in:

2018

By:

Yokoi, Katsuyuki;
Nakajima, Yoko;
Inagaki, Hidehito;
Tsutsumi, Makiko;
Ito, Tetsuya;
Kurahashi, Hiroki

Publication type:

Case Study

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.

Published in:

2007

By:

Jakubiczka, Sibylle;
Bettecken, Thomas;
Mohnike, Klaus;
Schneppenheim, Reinhard;
Stumm, Markus;
Tönnies, Holger;
Volleth, Marianne;
Wieacker, Peter;
Tönnies, Holger

Publication type:

journal article

Encefalopatía hiperamoniémica; valoración y manejo nutricional a propósito de un caso.

Published in:

2012

By:

Oliva Rodríguez, R.;
Suleiman Martos, Y.;
Pereira Cunnil, J. L.;
Serrano Aguayo, P.;
García Alfaro, C.;
García Luna, P. P.

Publication type:

Case Study

Induction and Prevention of Severe Hyperammonemia in the spf<sup>ash</sup> Mouse Model of Ornithine Transcarbamylase Deficiency Using shRNA and rAAV-mediated Gene Delivery.

Published in:

Molecular Therapy, 2011, v. 19, n. 5, p. 854, doi. 10.1038/mt.2011.32

By:

Cunningham, Sharon C;
Kok, Cindy Y;
Dane, Allison P;
Carpenter, Kevin;
Kizana, Eddy;
Kuchel, Philip W;
Alexander, Ian E

Publication type:

Article

903. Ornithine Transacarbamylase Deficiency Correction with Low Dose of Helper-Dependent Adenoviral Vector

Published in:

2005

By:

Brunetti-Pierri, Nicola;
Clarke, Christian;
Mane, Viraj;
Palmer, Donna;
Ng, Philip;
O'Brien, William;
Lee, Brendan

Publication type:

Abstract

Living donor liver transplantation from an asymptomatic mother who was a carrier for ornithine transcarbamylase deficiency.

Published in:

Pediatric Transplantation, 2012, v. 16, n. 6, p. E196, doi. 10.1111/j.1399-3046.2012.01716.x

By:

Wakiya, T.;
Sanada, Y.;
Urahashi, T.;
Ihara, Y.;
Yamada, N.;
Okada, N.;
Egami, S.;
Sakamoto, K.;
Murayama, K.;
Hakamada, K.;
Yasuda, Y.;
Mizuta, K.

Publication type:

Article

Ornithine transcarbamylase deficiency: Are carrier females suitable donors?

Published in:

Pediatric Transplantation, 2012, v. 16, n. 6, p. 525, doi. 10.1111/j.1399-3046.2012.01733.x

By:

Wong, Derek A.

Publication type:

Article

Severe hyperammonaemia in a previously healthy teenager.

Published in:

Annals of Clinical Biochemistry, 2000, v. 37, n. 5, p. 727, doi. 10.1258/0004563001899807

By:

Galloway, P. J.;
MacPhee, G. B.;
Galea, P.;
Robinson, P. H.

Publication type:

Article

Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment.

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 5, p. 1517, doi. 10.1007/s11011-018-0259-6

By:

Kido, Jun;
Matsumoto, Shirou;
Mitsubuchi, Hiroshi;
Endo, Fumio;
Nakamura, Kimitoshi

Publication type:

Article