Results 61 to 70 of about 1,153 (98)

Hyperammonemia in Inherited Metabolic Diseases: A Case Report. [PDF]

Cureus
Frankevich N, Makieva M, Mikhailova O, Frankevich V.   +3 more
europepmc   +1 more source

Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates. [PDF]

Orphanet J Rare Dis
Zhang Z, Wang X, Zhang J, Guan X, Wang Y, Hong D, Li Y, Yang P, Sun Y, Jiang T.   +9 more
europepmc   +1 more source

A Case of a Heterozygous Female Patient With Ornithine Transcarbamylase (OTC) Deficiency Successfully Treated by Liver Transplantation in Adulthood. [PDF]

Cureus
Kosugi R, Usui T, Inoue T, Ariyasu H.
europepmc   +1 more source

Late-onset ornithine transcarbamylase deficiency mimicking cognitive, behavioral and gait disorders: a case report and literature review. [PDF]

Postep Psychiatr Neurol
Przybycień A, Hołub-Kucharska W, Węgielnik J, Sławek J.   +3 more
europepmc   +1 more source

Biochemical Characterization of Disease-Associated Variants of Human Ornithine Transcarbamylase. [PDF]

ACS Chem Biol
Micheloni E, Watson SS, Beuning PJ, Ondrechen MJ.   +3 more
europepmc   +1 more source

Advances in vehicles for in situ delivery: From classical vectors to biologically inspired structures. [PDF]

Synth Syst Biotechnol
Wang H, Tang X, Pan X, Tang H, Gao J, Li Q.   +5 more
europepmc   +1 more source

Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a Hypomorphic OTC Variant (p.Leu301Phe) Previously Reported in Later-Onset Disease. [PDF]

Cureus
Anderson S, Ciarlariello M, Botti C, Velinov M.   +3 more
europepmc   +1 more source

A Rare Co-occurrence of Duchenne Muscular Dystrophy and Glycerol Kinase Deficiency Associated With Xp21 Contiguous Gene Deletion Syndrome: A Case Report. [PDF]

Cureus
Marques L, Lipari Pinto P, Coelho J, Florindo C, Soeiro E Sá M, Rodrigues R, Sousa A, Gaspar A.   +7 more
europepmc   +1 more source

Gastric Bypass Associated Hyperammonemia (GaBHA): A Case Study, Scoping Review of the Literature, and Proposed New Pathophysiologic Mechanism. [PDF]

Metabolites
Fenves AZ, Hatipoglu D, Robinson JC, Rothkopf MM.   +3 more
europepmc   +1 more source

A Possible Case of Acquired Urea Cycle Disorder in a Critical Care Patient. [PDF]

Cureus
Momoh R, Alijani H, Gaznavee KSMZZ, Ogundiya E, Sharp S.   +4 more
europepmc   +1 more source