Associated Papers
Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.
Kummer S et al.
International Journal of Molecular Sciences, 2022
35897673 (PubMed )
Supplement: ijms-23-08097-s001.zip › Supplementary_Table_S2.pdf
Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series.
Tang Z et al.
Frontiers in Neurology, 2021
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations.
Angelini C et al.
Jimd Reports, 2018
Select a paper to view details