Results 141 to 150 of about 51,297 (232)

Biocomputational frameworks for exploring ornithine transcarbamylase mutations in OTC deficiency psychosis. [PDF]

Ann Med Surg (Lond)
Shahab SH, Habib F.
europepmc   +1 more source

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem. [PDF]

JIMD Rep, 2023
Forsyth R, Peretz RH, Dempsey A, Britton J, Kratz L, Hamosh A, Vernon H, Batshaw ML, Valle D.   +8 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

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

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

Hyperammonaemia Due to Ornithine Transcarbamylase Deficiency [PDF]

Archives of Disease in Childhood, 1969
I J, Hopkins, J F, Connelly, A G, Dawson, F J, Hird, T G, Maddison   +4 more
openaire   +2 more sources

Fatal ornithine transcarbamylase deficiency presentation postresection of fourth ventricle ependymoma: illustrative case. [PDF]

J Neurosurg Case Lessons
Witt AS, Cava Prado L, Neumann R, Weedman J, Moseley R, Guttipatti P, Ung TH.   +6 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

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

Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series. [PDF]

JIMD Rep
Tholl SQ, McCaul W, Rupar A, Napier MP, Karp N, Yu AC, Ratko S, Khan A, Geraghty M, Prasad C.   +9 more
europepmc   +1 more source