Thong MK

Title : Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors - Tay_2020_J.Clin.Neurosci_72_468

Author(s) : Tay CG , Fong CY , Li L , Ganesan V , Teh CM , Gan CS , Thong MK

Ref : J Clin Neurosci , 72 :468 , 2020

Abstract :

PubMedSearch : Tay_2020_J.Clin.Neurosci_72_468

PubMedID: 31831253

Title : 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency - Rokicki_2017_Clin.Chim.Acta_471_95

Author(s) : Rokicki D , Pajdowska M , Trubicka J , Thong MK , Ciara E , Piekutowska-Abramczuk D , Pronicki M , Sikora R , Haidar R , Oltarzewski M , Jablonska E , Muthukumarasamy P , Sthaneswar P , Gan CS , Krajewska-Walasek M , Carrozzo R , Verrigni D , Semeraro M , Rizzo C , Taurisano R , Alhaddad B , Kovacs-Nagy R , Haack TB , Dionisi-Vici C , Pronicka E , Wortmann SB

Ref : Clinica Chimica Acta , 471 :95 , 2017

Abstract :

PubMedSearch : Rokicki_2017_Clin.Chim.Acta_471_95

PubMedID: 28526534

Thong MK

References (2)

1. Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors - Tay_2020_J.Clin.Neurosci_72_468

2. 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency - Rokicki_2017_Clin.Chim.Acta_471_95