January 15, 2022 Metabolic Diseases, NGS ENDGF556 D-2-hydroxyglutaric aciduria: D2HGDH gene Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Metabolic Diseases, NGS, NGS ENDGF141 Familial dyslipidemia / hypercholesterolemia: gene panel 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
August 12, 2020 Endocrinology, Metabolic Diseases, NGS, NGS ENDGF137 Glycogenoses: gene panel Learn more By Mario Fonte 0
April 28, 2021 Metabolic Diseases, NGS ENDGF549 HMG-CoA lyase deficiency: HMGCL gene Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Metabolic Diseases, NGS, NGS ENDGF139 Hyperammonemia: CA5A, CPS1, NAGS, OTC genes Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Metabolic Diseases, NGS, NGS ENDGF173 Hypogonadotropic hypogonadism (Kallmann syndrome): gene panel Learn more By Mario Fonte 0
August 12, 2020 Endocrinology, Metabolic Diseases, NGS, NGS ENDGF154 Hypomagnesemia: gene panel Learn more By Mario Fonte 0
August 12, 2020 Metabolic Diseases, Neurology, NGS, NGS ENDGF148 Leukodystrophies: gene panel Learn more By Mario Fonte 0
January 14, 2022 Metabolic Diseases, NGS ENDGF552 McArdle disease: PYGM gene Learn more By Mario Fonte 0
