- Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation
- Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections ectodermal dysplasia, benign tumors, and neuropathy
- Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature
- Quo vadis: the re-definition of "inborn metabolic diseases"
- Multiple phenotypes in phosphoglucomutase 1 deficiency