Research Papers Existing PMM2-Related Research Papers Sorbitol is a-severity biomarker for PMM2 CDG with therapeutic implications D-galactose supplementation in individuals with PMM2-CDG Should patients with PMM2-CDG be screened for adrenal insufficiency Towards a therapy for PMM2 Deficiency Socio-emotional Problems in Children with CDG Pharmacological-Chaperoning-A-Potential-Treatment Nutritional Therapies in CGDC Successful prenatal mannose treatment for PMM2-CDG in mice Mutations in PMM2 That Cause CDG CDG and Their Impact on the Endocrine System 29 French adult patients with PMM2-CDG Therapy for Growth Failure and IGF-1 Deficiency in PMM2-CDG Lack of Homozygotes for the Most Frequent Disease Allele in PMM2 PMM2-CDG in a macrosomic 16-month-old boy IGF system in children with congenital disorders of glycosylation Insights into complexity of congenital disorders of glycosylation Towards a therapy for phosphomannomutase 2 deficiency Expanding the Spectrum of PMM2-CDG Phenotype Exogenous mannose does not raise steady state mannose-6-phosphate High Residual Activity of PMM2 in Patients’ Fibroblasts The Molecular Landscape of PMM2 Deficiency in Iberian Peninsula
