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| 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 : Tay_2020_J.Clin.Neurosci_72_468 |
| ESTHER : Tay_2020_J.Clin.Neurosci_72_468 |
| 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 : Rokicki_2017_Clin.Chim.Acta_471_95 |
| ESTHER : Rokicki_2017_Clin.Chim.Acta_471_95 |
| PubMedSearch : Rokicki_2017_Clin.Chim.Acta_471_95 |
| PubMedID: 28526534 |