Results 101 to 110 of about 23,446 (182)

Urea Cycle Metabolism Disorder

, 2020

core   +1 more source

Hypothesis: proposals for the management of a neonate at risk of hyperammonaemia due to a urea cycle disorder

It is difficult to prevent hyperammonaemia in patients with urea cycle disorders that present in the newborn period. This is true, even if treatment is started prospectively because of an affected relative.
Leonard JV, Morris AA, Ward Platt MP
core  

A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel. [PDF]

Genes (Basel)
Abelson N, Kristal E, Hershkovitz E, Wormser O, Dolgin V, Amar S, Staretz-Chacham O.   +6 more
europepmc   +1 more source

Hyperammonemia associated with low doses and concentrations of valproic acid in older adults with neurocognitive disorder. [PDF]

Ment Health Clin
Coyne S, Das A.
europepmc   +1 more source

Citrullinemia type 1 manifesting with a stroke-like episode: a case report. [PDF]

Oxf Med Case Reports
Zayed A, Abdul-Hafez HA, Ashhab M, Dweikat I.   +3 more
europepmc   +1 more source

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

Neonatal carbamoyl phosphate synthetase I deficiency with severe hyperammonemic coma: the first report from Palestine. [PDF]

BMC Pediatr
Assi AK, Odeh A, Awwad HH, Kassem H, Dweikat I.   +4 more
europepmc   +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

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland. [PDF]

J Inherit Metab Dis
Scharre S, Hess AL, Gleich F, Garbade SF, Feyh P, Karall D, Baghdasaryan A, Huemer M, Hennermann JB, Hahn A, Lindner M, Gramer G, Luecke T, Kleinelanghorst N, Haeberle J, Lotz-Havla AS, Hoffmann GF, Okun JG, Muetze U, Kölker S.   +19 more
europepmc   +1 more source

Comatose and Urea Cycle Disorder

, 2008
Eelco F. M. Wijdicks
core   +1 more source