Slota C, Bevans M, Yang L, Shrader J, Joe G, Carrillo N. Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease. Disabil Rehabil. 2018 May;40(10):1206-13. doi: 10.1080/09638288.2017.1283712
Hunt SM, McKenna SP, Doward LC. Preliminary report on the development of a disease-specific instrument for assessing quality of life of adults with growth hormone deficiency. Acta Endocrinol. 1993 Jun 1;128(Suppl 2):37-40.