January 15, 2022 Metabolic Diseases, NGS ENDGF556 D-2-hydroxyglutaric aciduria: D2HGDH gene Learn more By Mario Fonte 0
January 29, 2022 Metabolic Diseases, NGS ENDGF558 GLUT1 deficiency syndrome 1: SLC2A1 gene Learn more By Mario Fonte 0
January 22, 2022 Nephrology, NGS ENDGF557 Hyperoxaluria, primary: AGXT, GRHPR, HOGA1 genes Learn more By Mario Fonte 0
January 14, 2022 Metabolic Diseases, NGS ENDGF552 McArdle disease: PYGM gene Learn more By Mario Fonte 0
January 14, 2022 Neurology, NGS, NGS, Pediatrics ENDGF553 Moyamoya disease: ACTA2, GUCY1A3, RNF213 genes Learn more By Mario Fonte 0
January 14, 2022 Cardiology, Neurology, NGS, NGS, NGS, Pediatrics ENDGF554 Periodic paralysis: gene panel Learn more By Mario Fonte 0
January 14, 2022 Metabolic Diseases, NGS ENDGF555 Xanthinuria, type I: XDH gene Learn more By Mario Fonte 0
