Results 111 to 120 of about 3,709 (187)

Psychological Stress Triggers a Hyperammonemia Episode in Patient with Ornithine Transcarbamylase Deficiency. [PDF]

Int J Environ Res Public Health, 2022
Fernández-Elías VE, Tornero-Aguilera JF, Parraca JA, Clemente-Suárez VJ.   +3 more
europepmc   +1 more source

Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency

, 2002
To assess alterations in brain metabolites in patients with late-onset ornithine transcarbamylase deficiency (OTCD). Methods:Six unrelated,asymptomatic Japanese late-onset OTCD patients were analyzed by proton MRS(1HMRS) using a point-resolved ...
高梨 潤一, 437459, Ikehira, Hiroo, Tanada, Shuji, et.al, 池平 博夫, 棚田 修二, Takanashi, Junichi, 437455, 437456, 437457, 437458, 437453, 437454   +13 more
core  

Radiation therapy in a ductal carcinoma in situ patient with ornithine transcarbamylase deficiency: a case report. [PDF]

Radiat Oncol J
Kang I, Park J, Yang C, Kim A, Tang M, Lu K, Carr A, Sener SF, McGowan R, Yano S, Yoo SK.   +10 more
europepmc   +1 more source

P062: A case of ornithine transcarbamylase deficiency

Genetics in Medicine Open
Suad Siuffi Campo, Paul Hillman, David Rodriguez-Buritica   +2 more
doaj   +1 more source

Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case. [PDF]

J Neurosurg Case Lessons
Witt AS, Cava Prado L, Neumann R, Weedman J, Moseley R, Guttipatti P, Ung TH.   +6 more
europepmc   +1 more source

Ornithine Transcarbamylase Deficiency Presenting as Acute Encephalopathy After Strabismus Surgery. [PDF]

Cureus, 2022
Lung J, Sathappan S, Sabir I, Maier R.
europepmc   +1 more source

Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency

, 2016
In this case report we describe a 67-year-old male, admitted to the ICU with pneumonia who unexpectedly developed a fatal coma due to hyperammonaemia. At postmortem the diagnosis late-onset ornithine transcarbamylase deficiency was made. The non-specific
Wielders, J. P M, Groot, O. A., Bijvoet, G. P., van der Sijs-Bos, C. J M   +3 more
core  

Development of patient-centric conceptual frameworks for symptoms and impacts of ornithine transcarbamylase deficiency (OTCD). [PDF]

J Patient Rep Outcomes
Theodore-Oklota C, O'Mara A, Butler J, Egan S, Hribal E, Evans C.   +5 more
europepmc   +1 more source

Liver transplantation for late-onset ornithine transcarbamylase deficiency: A case report. [PDF]

World J Clin Cases, 2022
Fu XH, Hu YH, Liao JX, Chen L, Hu ZQ, Wen JL, Chen SL.   +6 more
europepmc   +1 more source

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series. [PDF]

JIMD Rep
Tholl SQ, McCaul W, Rupar A, Napier MP, Karp N, Yu AC, Ratko S, Khan A, Geraghty M, Prasad C.   +9 more
europepmc   +1 more source