Original Research Articles
Succinyl-CoA:3-ketoacid CoA Transferase (SCOT) Deficiency: Case Series of Eight Patients with Novel OXCT1 Mutations from a Consanguineous Population in India
Radharamadevi Akella
Alopecia in Hereditary Epidermolysis Bullosa: A Series of 52 Cases
Kmar Turki, Khadija Sellami, Rim Chaabouni, Fatma Hammami, Emna Mnif, Emna Bahloul, and Hamida Turki
Case Studies
Identification of Two Rare Variants in SLC2A1 and SMC1A in a Child with Epilepsy and Behavioral Disorders: A Case Report from Côte d’Ivoire
Kouakou Kouame Cyprien, Doumbia Mariam, Dainguy Marie Evelyne, Folquet Amorissani, and Augustine Djivohessoun