Results 51 to 60 of about 1,153 (98)

Hyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting. [PDF]

Cureus
Zahiri H, Naimi F, Elouali A, Babakhouya A, Rkain M.   +4 more
europepmc   +1 more source

[Hepatic encephalopathy from cholangitis in a young patient with ornithine transcarbamylase mutation]. [PDF]

Rev Med Inst Mex Seguro Soc
Rojas-Salazar YL, Gómez-Montañez E, Rojas-Salazar JG.   +2 more
europepmc   +1 more source

Lysine: Sources, Metabolism, Physiological Importance, and Use as a Supplement. [PDF]

Int J Mol Sci
Holeček M.
europepmc   +1 more source

Early continuous blood purification and timely liver transplantation in a neonatal-onset ornithine transcarbamylase deficiency: a case report. [PDF]

Transl Pediatr
Zhang Z, Xie T, Pan D, Ju X, Shi L, Ma X, Gao Z, Chen Z.   +7 more
europepmc   +1 more source

Acute hyperammonemic encephalopathy masquerading as postoperative delirium in a patient who underwent lung surgery: a case report. [PDF]

BMC Anesthesiol
Chen CQ, Hu ZP, Ma XJ, Tang XD, Zheng X, Yao YX.   +5 more
europepmc   +1 more source

Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders. [PDF]

J Inherit Metab Dis
Coughlin CR, Barber J, Murali CN, Members of the Urea Cycle Disorders Consortium (UCDC), Wilkening G.   +4 more
europepmc   +1 more source

Non-hepatic Hyperammonemia Encephalopathy: A Late Complication of Roux-en-Y-Gastric Bypass. [PDF]

Cureus
Talia O, Samreen SD, Grewal A, Arshi SJ, Arsene C.   +4 more
europepmc   +1 more source

Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene. [PDF]

Orphanet J Rare Dis
Zhang Y, Gu X, Shi C, Xiong H, Xiao D, Deng Z, Wang L, Yang X, Wei T, Liang P, Hao H.   +10 more
europepmc   +1 more source

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models. [PDF]

J Inherit Metab Dis
Ramosaj A, Borsuk M, Underhaug J, Mathis D, Matsumoto S, Keogh A, Banz V, Pandey AV, Gougeard N, Rubio V, Martinez A, Allegri G, Poms M, Thöny B, Häberle J, Laemmle A.   +15 more
europepmc   +1 more source

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