Results 101 to 110 of about 9,482 (191)

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

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

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

Hyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting. [PDF]

Cureus
Zahiri H, Naimi F, Elouali A, Babakhouya A, Rkain M.   +4 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

Hyperammonemia syndrome in a liver transplant recipient due to <i>Ureaplasma parvum</i>: a case report. [PDF]

J Surg Case Rep
Tamma S, Dorris E, Hills E, Van Winkle SG, Jhanji R, Goss J, O'Mahony C, Galván NTN, Rana A, Huang CS.   +9 more
europepmc   +1 more source

Quantitative CT-scan to evaluate cerebral edema secondary to hyperammonemia in ICU: A proof-of-concept study. [PDF]

J Intensive Med
Jeantin L, Piljan M, Galanaud D, Marois C, Bouzbib C, Puybasset L, Thabut D, Weiss N.   +7 more
europepmc   +1 more source

Exendin-4 protects brain endothelial cell damage against hyperammonemic condition. [PDF]

Biochem Biophys Rep
Ahn SY, Jo D, Choi SY, Song J.
europepmc   +1 more source

A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis. [PDF]

Mol Genet Metab Rep
Bin Hadyan MF, Saleh MA, Aldalaqan S, Mushiba AM, Alasmari AM, Faqeih EA, Peer-Zada AA.   +6 more
europepmc   +1 more source