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- [1] Severe Phenotype of Phosphorylase Kinase-Deficient Liver Glycogenosis with Mutations in the PHKG2 Gene Pediatric Research, 2003, 54 : 834 - 839
- [7] Variability of clinical and biochemical phenotype in liver phosphorylase kinase deficiency with variants in the phosphorylase kinase (PHKG2) gene JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2020, 33 (09): : 1117 - 1123