Results 141 to 150 of about 12,857 (206)

3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency in an adolescent male: a case report and narrative review of Chinese patients. [PDF]

BMC Pediatr
Yang K, Zhang Y, Zang L, Liu Y, Li Y, Wang W, Zhang P, Zhao Z, Tian L, Liu J.   +9 more
europepmc   +1 more source

Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene. [PDF]

Clin Case Rep
Li T, Liu T, Li L, Liu Y, Zhang Q, Cheng X, Li Z.   +6 more
europepmc   +1 more source

Transcatheter closure of patent ductus venosus in an adolescent using a KONAR-Multifunctional Occluder device. [PDF]

Ann Pediatr Cardiol
Shah B, Uppal A, Prajapathi S, Singh S.
europepmc   +1 more source

Late-onset ornithine transcarbamylase deficiency with neurological damage and serial brain multimodality monitoring: a case report. [PDF]

Front Med (Lausanne)
Zhou Y, Liu Y, Zhou Y, Cao Y.
europepmc   +1 more source

Seasonal variation in ammonia among euthymic women with Bipolar I Disorder treated with valproic acid in Turkey: a prospective study. [PDF]

BMC Psychiatry
Özönder Ünal I, Erensoy H, Berkol TD.
europepmc   +1 more source

Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate. [PDF]

Orphanet J Rare Dis
Spada M, Porta F.
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

Severe Hyperammonemic Encephalopathy Following Sustained-Release Sodium Valproate Overdose: A Case Report. [PDF]

Cureus
Ban S, Toida C, Yamazaki M, Yoshida M, Onuki T, Morimura N.   +5 more
europepmc   +1 more source