Results 131 to 140 of about 3,709 (187)

Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations. [PDF]

Neurol Genet
Zhang C, Shan J, Su J, Wang G, Huo Q, Xu R, Dong M.   +6 more
europepmc   +1 more source

Diagnostic challenges in ornithine transcarbamylase deficiency lacking genetic confirmation: liver biopsy <i>versus</i> human induced pluripotent stem cell technology. [PDF]

Mol Genet Metab Rep
Laemmle A, Naef N.
europepmc   +1 more source

Corticosteroid-induced hyperammonaemic encephalopathy in a woman with late-onset ornithine transcarbamylase deficiency. [PDF]

BMJ Case Rep
McCormick BJ, Ritchie LV, Porter IE.
europepmc   +1 more source

A preliminary retrospective evaluation of screening and diagnosis of ornithine transcarbamylase deficiency in high-risk patients at a referral center in Vietnam. [PDF]

Heliyon
Tran DM, Tran TTT, Luong QH, Tran MTC.
europepmc   +1 more source

Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a Hypomorphic OTC Variant (p.Leu301Phe) Previously Reported in Later-Onset Disease. [PDF]

Cureus
Anderson S, Ciarlariello M, Botti C, Velinov M.   +3 more
europepmc   +1 more source

Follow-up to 'Glycaemic management in a child with ornithine transcarbamylase deficiency undergoing cardiac surgery with hypothermic cardiopulmonary bypass'. [PDF]

Anaesth Rep
Yamauchi Y, Kojima T.
europepmc   +1 more source

Encephalopathy After a High-Dose Dexamethasone Suppression Test in a Woman With X-Linked Ornithine Transcarbamylase Deficiency. [PDF]

AACE Clin Case Rep
Seol H, Hong YH, Jeon MJ.
europepmc   +1 more source

Severe Sepsis Associated With Multiorgan Failure and Precipitating Nonhepatic Hyperammonemia Crisis in Late-Onset Ornithine Transcarbamylase Deficiency: A Case Report and Literature Review. [PDF]

Cureus
Forsah SF, Ugwendum D, Arrey Agbor DB, Ndemazie NB, Kankeu Tonpouwo G, Ndema N, Taylor AA, Nfonoyim J.   +7 more
europepmc   +1 more source

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Ornithine transcarbamylase deficiency and pancreatitis

Journal of Pediatrics, 2001
We describe a male patient with a Y202H ornithine transcarbamylase deficiency gene mutation who had pancreatitis while taking a low-protein diet, citrulline, and sodium phenylbutyrate.
Gérard T Berry
exaly   +3 more sources