Results 41 to 50 of about 1,132 (104)

Two commonly reported incidental variants in OTC are associated with late-onset disease. [PDF]

HGG Adv
Lang SH, Lo RS, Cromie GA, Dudley AM, Mew NA, Simpson K, Sutton VR, Darilek S, Ali S, Snyder MT, Lee B, Marom R, Nagamani SCS, Burrage LC.   +13 more
europepmc   +1 more source

Pediatric liver transplantation for inherited metabolic disease-Current challenges. [PDF]

Saudi J Gastroenterol
Vara R, Hadzic N.
europepmc   +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

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

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

[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

Gene Symbol: Otc. Disease: Ornithine Carbamoyltransferase Deficiency

, 2008
HWU, WUH-LIANG, 胡務亮
core  

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

Lysine: Sources, Metabolism, Physiological Importance, and Use as a Supplement. [PDF]

Int J Mol Sci
Holeček M.
europepmc   +1 more source

Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants

, 2000
BURLINA A, Arranz JA, Sent??s M, Riudor E, Rod??s M, Rubio V   +5 more
core