Results 41 to 50 of about 1,153 (98)

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

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

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

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan. [PDF]

Int J Neonatal Screen
Lee T, Matsui M, Yokoyama Y, Bo R, Awano H, Kataoka D, Ueda M, Minato T, Kobayashi H, Hasegawa Y, Murayama K, Takeshima Y.   +11 more
europepmc   +1 more source

Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders. [PDF]

Sci Rep
Posset R, Epp F, Garbade SF, Gleich F, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M.   +8 more
europepmc   +1 more source

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

L-Citrulline in Maternal-Fetal and Neonatal Health: Metabolic Mechanisms and Emerging Therapeutic Applications. [PDF]

Nutrients
Collins-Smith A, Jain S, Jain S.
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