Results 131 to 140 of about 51,297 (232)

Late-onset ornithine transcarbamylase deficiency with neurological damage and serial brain multimodality monitoring: a case report. [PDF]

Front Med (Lausanne)
Zhou Y, Liu Y, Zhou Y, Cao Y.
europepmc   +1 more source

Late-onset ornithine transcarbamylase deficiency: a potentially fatal yet treatable cause of coma

, 2009
Hyperammonaemia due to ornithine transcarbamylase (OTC) deficiency is a well-described cause of coma in neonates. Rarely, adults with this disorder may also present with coma.
Reade, Michael C., Dewey, Helen M., Simpson, Marion A., Sugumar, Hariharan, Walker, Susan P., Crosbie, David C.   +5 more
core  

A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions. [PDF]

Clin Case Rep
Khan M, Rafique SA, Khan S, Shah A, Karan A, Khalid AA, Afridi A, Tamim H, Talukder MRT.   +8 more
europepmc   +1 more source

Rapamycin nanoparticles mitigate anti-AAV antibody formation in a mouse model of ornithine transcarbamylase deficiency. [PDF]

Mol Ther Adv
Vicidomini A, Boisgerault F, Romano G, Guarnaccia C, Vidal P, Collaud F, Soria LR, de Sabbata G, Tedesco N, Lisjak M, Saxena H, Camparini L, Iaconcig A, Moretti L, Skoko N, Ilyinskii P, Brunetti-Pierri N, Bortolussi G, Ronzitti G, Kishimoto TK, Muro AF.   +20 more
europepmc   +1 more source

Longitudinal outcomes of non-transplanted ornithine transcarbamylase deficiency in males and females: a multicentre UK natural history cohort. [PDF]

Orphanet J Rare Dis
Seker-Yilmaz B, Baruteau J, Buttigieg R, Chakrapani A, Champion M, Davies C, Davison J, Dixon M, Fang S, Footitt E, Gribben J, Grunewald S, Hack G, Hartley T, Lemonde H, Mills P, Morris AAM, Mundy H, Pandithan D, Ramachandran R, Sivananthan S, Tan C, Tarr D, Van Dorp L, Vara R, Woodward A, Gissen P.   +26 more
europepmc   +1 more source

Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency. [PDF]

BMC Pediatr
Dweikat I, Kassem H, Hamdan KR, Rayyan FA, Awad F.   +4 more
europepmc   +1 more source

Ornithine transcarbamylase deficiency: A diagnostic odyssey. [PDF]

J Inherit Metab Dis, 2022
Knerr I, Cassiman D.
europepmc   +1 more source

Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review

The Neurohospitalist, 2019
M. Pizzi, D. Alejos, T. Hasan, P. Atwal, Suparna R. Krishnaiengar, W. Freeman   +5 more
semanticscholar   +1 more source

Ornithine transcarbamylase deficiency

, 2019
Yuranga Weerakkody, Rohit Sharma, David Luong   +2 more
openaire   +1 more source

Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review. [PDF]

Metab Brain Dis
Konczal L, Enns GM, Gropman AL, Garcia D, Merritt Ii JL, Wilkening G.   +5 more
europepmc   +1 more source