| | | | | | | | |
| Shrimal S, | et al. | Mutations in STT3A and STT3B cause two congenital disorders of glycosylation | Hum Mol Genet | | 22 | 22 | 4638-4645 | 2013 |
| Barone R, | et al. | DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy | Ann Neurol | | 72 | 4 | 550-558 | 2012 |
| Messina S, | et al. | Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy | Neurology | | 73 | 10 | 1599-1601 | 2009 |
| Hodax JK, | et al. | Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia | J Pediatr Endocrinol Metab | | 30 | 2 | 247-251 | 2017 |
| Albash B, | et al. | Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature | 1. Eur J Pediatr | | 173 | 5 | 647-653 | 2014 |
| Kueppers F, | Sanders C. | State-of-the-art testing for alpha-1 antitrypsin deficiency | Allergy Asthma Proc | | 38 | 2 | 108-114 | 2017 |
| Goldstein J, | et al. | Phosphorylase Kinase Deficiency | GeneReviews-« | GeneReviews-« | 0 | 0 | | 2011 |
| Bali DS, | et al. | Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene | Mol Genet Metab | | 111 | 3 | 309-313 | 2014 |
