Showing results 1 to 3 of 3
| Title | Author(s) | Issue Date | |
|---|---|---|---|
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers Journal:Molecular Genetics and Metabolism Reports | 1-Mar-2024 | ||
Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathy Journal:Pediatric Nephrology | 3-Sep-2024 | ||
Synaptic dysfunction is a likely cause of cognitive impairment in ciliopathy, bardet-biedl syndrome Journal:Opera Medica et Physiologica | 2018 |