Results 31 to 40 of about 467,750 (151)

Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC

Stem Cell Research, 2020
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 3-day-old boy with 47,XXY and ornithine transcarbamylase deficiency carrying hemizygote mutation (c.663+2T>G (sliping)) in OTC. The iPSCs had original
Xiaomeng Yang, Beibei Yan, Haiyan Zhang, Yanyan Ma, Qi Zhou, Yue Li, Jingyun Guan, Dong Wang, Yi Liu, Zhongtao Gai   +9 more
doaj   +1 more source

Management of late onset urea cycle disorders—a remaining challenge for the intensivist?

Annals of Intensive Care, 2021
Background Hyperammonemia caused by a disorder of the urea cycle is a rare cause of metabolic encephalopathy that may be underdiagnosed by the adult intensivists because of its rarity.
S. Redant, A. Empain, A. Mugisha, P. Kamgang, R. Attou, P. M. Honoré, D. De Bels   +6 more
doaj   +1 more source

Metabolic Cause of Hyperkinetic Behavior

Pediatric Neurology Briefs, 2004
An 8-year-old female child with congenital ornithine transcarbamylase deficiency (OTCD) who presented with a hyperkinetic behavior disorder at 3 years is reported from the Medical School Hanover, Germany.
J Gordon Millichap
doaj   +1 more source

A new mouse model of mild ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations at baseline and upon systemic immune activation. [PDF]

PLoS ONE, 2015
Ornithine transcarbamylase deficiency (OTCD, OMIM# 311250) is an inherited X-linked urea cycle disorder that is characterized by hyperammonemia and orotic aciduria.
Tatyana N Tarasenko, Odrick R Rosas, Larry N Singh, Kara Kristaponis, Hilary Vernon, Peter J McGuire   +5 more
doaj   +1 more source

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. [PDF]

, 2006
We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age.
Di Palma A, Burlina AP, Sperli D, D. Sperlì, A. P. Burlina, Morrone, Amelia, A. Peduto, A. B. Burlina, A. Morrone, Bellizzi A, BURLINA A, Morrone A, A. Bellizzi, A. Di Palma, Peduto A   +14 more
core   +1 more source

Generation of a human induced pluripotent stem cell line (SDQLCHi036-A) from a patient with ornithine transcarbamylase deficiency carrying a deletion involving 3–9 exons of OTC gene

Stem Cell Research, 2021
Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder. Maternal OTCD can lead to life-threatening hyperammonemia if untreated.
Jingyun Guan, Beibei Yan, Haiyan Zhang, Chen Liu, Yue Li, Xiaomeng Yang, Zilong Li, Zhongtao Gai, Yi Liu   +8 more
doaj   +1 more source

Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy

JIMD Reports, 2020
Ornithine transcarbamylase (OTC) deficiency is an X‐linked urea cycle disorder which—in severe form—results in rapid accumulation of ammonia and glutamine with subsequent irreversible brain injury. We present a case of severe left ventricular dysfunction
Adrian C. Mattke, Fumiaki Shikata, James McGill, Rob Justo, Prem Venugopal   +4 more
doaj   +1 more source

Restoring ornithine transcarbamylase (OTC) activity in an OTC‐deficient mouse model using LUNAR‐OTC mRNA

Clinical and Translational Discovery, 2022
Ornithine transcarbamylase (OTC) catalyses the reaction from ornithine to citrulline in the urea cycle. Ornithine transcarbamylase deficiency (OTCD) results in episodes of hyperammonemia.
Hailong Yu, Edward Brewer, Michael Shields, Michael Crowder, Cristiano Sacchetti, Benchawanna Soontornniyomkij, Dandan Dou, Brenda Clemente, Marciano Sablad, Padmanabh Chivukula, Steve Hughes, Scott Roberts, Kumar Rajappan, Steve Tannis, Rose Sekulovich, Suezanne Parker, Pattraranee Limphong   +16 more
doaj   +1 more source

Growth, extraction and assay methods for the enzymes ornithine transcarbamylase, aspartate transcarbamylase and carbamyl phosphokinase from Neurospora [PDF]

, 1965
Growth, extraction and assay methods for the enzymes ornithine transcarbamylase, aspartate transcarbamylase and carbamyl phosphokinase from ...
Davis, R. H., R. H. Davis
core   +1 more source

Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium

, 2017
Partial ornithine transcarbamylase deficiency (pOTCD), an enzymatic defect within the urea cycle, is an increasingly recognized etiology for hyperammonemia of unclear source following a stressor within female adults.
R. Cannistraro, P. S. Atwal, E. D. Goldstein, J. F. Meschia   +3 more
core   +1 more source