August 12, 2020 Metabolic Diseases, Other methodologies ENDGF110 Abetalipoproteinemia: MTTP gene Learn more By Mario Fonte 0
August 12, 2020 Metabolic Diseases, Other methodologies ENDGF114 Alkaptonuria: HGD gene Learn more By Mario Fonte 0
August 12, 2020 Metabolic Diseases, Other methodologies ENDGF122 Apolipoprotein B deficiency (hypobetalipoproteinemia): APOB gene Learn more By Mario Fonte 0
August 12, 2020 Metabolic Diseases, Other methodologies ENDGF140 Classic familial hypercholesterolemia: LDLR gene Learn more By Mario Fonte 0
August 12, 2020 Metabolic Diseases, Other methodologies ENDGF144 Classic homocystinuria: CBS gene Learn more By Mario Fonte 0
August 12, 2020 Metabolic Diseases, Other methodologies ENDGF126 Congenital disorder of glycosylation type Ia: PMM2 gene Learn more By Mario Fonte 0
August 12, 2020 Metabolic Diseases, Other methodologies ENDGF117 Creatine transport deficiency: SLC6A8 gene – familial case Learn more By Mario Fonte 0
August 12, 2020 Metabolic Diseases, Other methodologies ENDGF116 Creatine transport deficiency: SLC6A8 gene – index case Learn more By Mario Fonte 0
January 15, 2022 Metabolic Diseases, NGS ENDGF556 D-2-hydroxyglutaric aciduria: D2HGDH gene Learn more By Mario Fonte 0
August 12, 2020 Metabolic Diseases, Other methodologies ENDGF138 Extraoral halitosis: SELENBP1 gene Learn more By Mario Fonte 0
