Results 51 to 60 of about 1,132 (104)

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

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

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

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

Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates. [PDF]

Orphanet J Rare Dis
Zhang Z, Wang X, Zhang J, Guan X, Wang Y, Hong D, Li Y, Yang P, Sun Y, Jiang T.   +9 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

Hyperammonemia in Inherited Metabolic Diseases: A Case Report. [PDF]

Cureus
Frankevich N, Makieva M, Mikhailova O, Frankevich V.   +3 more
europepmc   +1 more source

A Case of a Heterozygous Female Patient With Ornithine Transcarbamylase (OTC) Deficiency Successfully Treated by Liver Transplantation in Adulthood. [PDF]

Cureus
Kosugi R, Usui T, Inoue T, Ariyasu H.
europepmc   +1 more source