Results 121 to 130 of about 3,709 (187)

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

[A case of partial ornithine transcarbamylase deficiency].

No to hattatsu = Brain and development, 1989
Ichiba, Naofumi, Wakita, Yoshiharu
openaire   +2 more sources

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

Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review. [PDF]

Front Genet, 2022
Kido J, Sugawara K, Sawada T, Matsumoto S, Nakamura K.   +4 more
europepmc   +1 more source

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

Transient Cortical Blindness in a Toddler With Heterozygous Ornithine Transcarbamylase Deficiency. [PDF]

Cureus, 2021
Eskander PN, Romani SS.
europepmc   +1 more source

Delayed recognition of autism spectrum disorder and attention-deficit/hyperactivity disorder in a girl with ornithine transcarbamylase deficiency: A case report. [PDF]

Medicine (Baltimore), 2023
Kadono S, Miyawaki D, Goto A, Hirai K, Sakamoto S, Hama H, Nishiura S, Hamazaki T, Inoue K.   +8 more
europepmc   +1 more source

Imaging of extrapontine myelinolysis preceding central pontine myelinolysis in a case of ornithine transcarbamylase deficiency with hyperammonaemia and hypokalaemia. [PDF]

BMJ Neurol Open, 2022
Tanaka Y, Matsuki M, Furukawa R, Nakata W, Sakurai Y, Ajihara S, Kawano A, Mori H.   +7 more
europepmc   +1 more source

Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review. [PDF]

Postep Psychiatr Neurol
Przybycień A, Hołub-Kucharska W, Węgielnik J, Sławek J.   +3 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