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| Title : MEGDEL Syndrome: Expanding the Phenotype and New Mutations - |
| Author(s) : Sequeira S , Rodrigues M , Jacinto S , Wevers RA , Wortmann SB |
| Ref : Neuropediatrics , 48 :382 , 2017 |
| PubMedID: 28505671 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect - Wortmann_2014_JIMD.Rep_16_1 |
| Author(s) : Wortmann SB , Kluijtmans LA , Sequeira S , Wevers RA , Morava E |
| Ref : JIMD Rep , 16 :1 , 2014 |
| Abstract : Wortmann_2014_JIMD.Rep_16_1 |
| ESTHER : Wortmann_2014_JIMD.Rep_16_1 |
| PubMedSearch : Wortmann_2014_JIMD.Rep_16_1 |
| PubMedID: 24757000 |