Results 101 to 110 of about 467,750 (151)

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

Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency. [PDF]

Mol Genet Metab Rep, 2022
Feigenbaum A, Lamale-Smith L, Weinstein L.   +2 more
europepmc   +1 more source

P062: A case of ornithine transcarbamylase deficiency

Genetics in Medicine Open
Suad Siuffi Campo, Paul Hillman, David Rodriguez-Buritica   +2 more
doaj   +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

A complex case of delayed diagnosis of ornithine transcarbamylase deficiency in an adult patient with multiple comorbidities. [PDF]

Mol Genet Metab Rep, 2022
Abbott J, Senzatimore M, Atwal P.
europepmc   +1 more source

Diffusion Tensor Imaging in Ornithine Transcarbamylase Deficiency

, 2016
The Urea Cycle Disorders (UCDs) are a relatively common (1:8200) group of inborn errors of ammonia metabolism. They have been correlated with a wide range of neurological deficits ranging from mild, nonverbal learning disabilities in heterozygote ...
Barkovich, Emil Jernstedt, Gropman, Andrea L.   +1 more
core  

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

Psychological Stress Triggers a Hyperammonemia Episode in Patient with Ornithine Transcarbamylase Deficiency. [PDF]

Int J Environ Res Public Health, 2022
Fernández-Elías VE, Tornero-Aguilera JF, Parraca JA, Clemente-Suárez VJ.   +3 more
europepmc   +1 more source

Radiation therapy in a ductal carcinoma in situ patient with ornithine transcarbamylase deficiency: a case report. [PDF]

Radiat Oncol J
Kang I, Park J, Yang C, Kim A, Tang M, Lu K, Carr A, Sener SF, McGowan R, Yano S, Yoo SK.   +10 more
europepmc   +1 more source

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients. [PDF]

Mol Genet Genomic Med
Wang Q, Xiao H, Zhang F, Li H, Zhao J, Yuan H.   +5 more
europepmc   +1 more source