Results 101 to 110 of about 3,709 (187)

Lipid nanoparticle-targeted mRNA formulation as a treatment for ornithine-transcarbamylase deficiency model mice. [PDF]

Mol Ther Nucleic Acids, 2023
Yamazaki K, Kubara K, Ishii S, Kondo K, Suzuki Y, Miyazaki T, Mitsuhashi K, Ito M, Tsukahara K.   +8 more
europepmc   +1 more source

Ornithine transcarbamylase deficiency

, 2019
Yuranga Weerakkody, Rohit Sharma, David Luong   +2 more
openaire   +1 more source

Fatal Late-Onset Ornithine Transcarbamylase Deficiency in an Adolescent: A Case Report. [PDF]

Cureus
Christou E, Ntouzepi K, Machaira M, Tziouvas K, Patsoura A.   +4 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

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

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

Mania following acute decompensation in ornithine transcarbamylase deficiency.

, 2015
Background Ornithine transcarbamylase deficiency is the most common urea cycle disorder and presents an X-linked pattern of inheritance. Both males and females may be affected with variation in severity and age of onset.
SIRRS, Sandra, MATTMAN, Andre, JACQUINET, Adeline, LEHMAN, Anna   +3 more
core  

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

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