Results 151 to 160 of about 51,297 (232)

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. [PDF]

Mol Genet Metab Rep, 2023
Ramosaj A, Singhal P, Schaller A, Laemmle A.   +3 more
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

[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

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

Biochemical Characterization of Disease-Associated Variants of Human Ornithine Transcarbamylase. [PDF]

ACS Chem Biol
Micheloni E, Watson SS, Beuning PJ, Ondrechen MJ.   +3 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

[A case of partial ornithine transcarbamylase deficiency].

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

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

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

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