Žigman, T.* et al. ATP synthase deficiency due to m.8528T>C mutation - A novel cause of severe neonatal hyperammonemia requiring hemodialysis. J. Pediatr. Endocrinol. Metab. 34, 389-393 (2021)
Steichen-Gersdorf, E.* ; Lorenz-Depiereux, B. ; Strom, T.M. & Shaw, N.J.* Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1. J. Pediatr. Endocrinol. Metab. 28, 967-970 (2015)
Hinney, A.* et al. No impact of obesity susceptibility loci on weight regain after a lifestyle intervention in overweight children. J. Pediatr. Endocrinol. Metab. 26, 1209-1213 (2013)
Lombardo, F.* et al. Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome. J. Pediatr. Endocrinol. Metab. 18, 1391-1397 (2005)