Results 181 to 190 of about 482,563 (236)

Longitudinal outcomes of non-transplanted ornithine transcarbamylase deficiency in males and females: a multicentre UK natural history cohort. [PDF]

Orphanet J Rare Dis
Seker-Yilmaz B, Baruteau J, Buttigieg R, Chakrapani A, Champion M, Davies C, Davison J, Dixon M, Fang S, Footitt E, Gribben J, Grunewald S, Hack G, Hartley T, Lemonde H, Mills P, Morris AAM, Mundy H, Pandithan D, Ramachandran R, Sivananthan S, Tan C, Tarr D, Van Dorp L, Vara R, Woodward A, Gissen P.   +26 more
europepmc   +1 more source

Infarction or Metabolic Breakdown? Longitudinally Extensive Diffusion-Restricted Lesions from the Medulla Oblongata to the Lumbar Spinal Cord. [PDF]

Diagnostics (Basel)
Nakaya Y, Hayashi K, Sato M, Midori Y, Miura T, Hayashi H, Hayashi K, Kobayashi Y.   +7 more
europepmc   +1 more source

Elucidate the structural role of helper lipids in modulating hepatic expression following repeated intravenous administration of mRNA-LNPs. [PDF]

Mater Today Bio
Ge J, Bo X, Zhu X, Long M, Zhang Y, Qiu M, Yuan Q, Ott M, Liu Y, Zhao Z, Huang L, Xia Q, Yang T, Tang S.   +13 more
europepmc   +1 more source

<i>Enterococcus faecium</i> WEFA23-Derived Surface Layer Protein OTC Prevents <i>Listeria monocytogenes</i> Invasion by Strengthening Intestinal Barrier Function and Modulating Immune Responses. [PDF]

Foods
He Y, Dong B, Xie K, Hu Y, Huang Y, Tao X, Wei H.   +6 more
europepmc   +1 more source

Hepatocyte HIF2α Downregulates the Urea Cycle Through Suppression of HNF4α. [PDF]

Gastro Hep Adv
Cantwell MT, El-Derany MO, Reddy Mooli RG, Ramakrishnan SK, Shah YM.   +4 more
europepmc   +1 more source

A Young Man with Late-onset Ornithine Transcarbamylase Deficiency Successfully Treated with Prompt and Intensive Blood Purification Therapy for Severe Hyperammonemic Encephalopathy. [PDF]

Intern Med
Toba N, Sonoda T, Ishigaki S, Oda M, Nakamura Y, Kudo H, Nakajima S, Takikawa K, Ouchi H, Kato K, Kikuchi T, Nakaya I.   +11 more
europepmc   +1 more source

Adult-Onset Ornithine Transcarbamylase (OTC) Deficiency Unmasked by the Atkins’ Diet

Journal of Hepatology, 2010
Late-onset symptoms of urea-cycle disorder may lead to a life-threatening disease which is often undetected. We report the clinical and metabolic manifestations of acute hyperammonemic encephalopathy in a 47-year-old asymptomatic man with ornithine ...
Carlo Rodolfo Largiadèr, Jean-Marc Nuoffer, Ziv Ben-Ari   +2 more
exaly   +4 more sources

Some of the next articles are maybe not open access.

Related searches:

The Ornithine Transcarbamylase (OTC) Gene: Mutations in 50 Japanese Families With OTC Deficiency

American Journal of Medical Genetics, Part A, 1997
Mutations in the OTC gene in 50 Japanese families with OTC deficiency were reviewed in relation to the phenotype of the patients and predicted structure of the mutant enzyme. Similar to other X-linked diseases, mutant alleles in OTC deficiency are highly heterogeneous. Mutations observed in male patients with neonatal onset of the disease included base
Sumio Tănase, Ichiro Matsuda
exaly   +3 more sources

Whole Xp Deletion in a Girl With Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency [PDF]

Molecular Syndromology, 2010
<i>Background:</i> Females with a total or partial deletion of the short arm of the X chromosome have variable features of Turner syndrome, but mental retardation (MR) rarely occurs.
Baiba Lāce, Maire Peters
exaly   +2 more sources