NGLY1 deficiency: Novel variants and literature review
Ariana Kariminejad, Marjan Shakiba, Shams Mehrvash, Parva Namiranian, Maryam Eghbali, Said Talebi, Mina Makvand, Jaak Jaeken, Hossein Najmabadi, Raoul C. M. Hennekam
Topics & Concepts
HypotoniaPhenotypeIntellectual disabilityMuscle biopsyMedicinePathologyGeneticsBiologyPediatricsBiopsyGeneAdenosine and Purinergic SignalingPancreatic function and diabetesBiochemical and Molecular Research