Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamineBelinda Galeano, Marjan Huizing, Riko Klootwijk et al.|Journal of Clinical Investigation|2007Cited by 202
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow upRuqaiah Altassan, Mari‐Anne Vals, Romain Péanne et al.|Journal of Inherited Metabolic Disease|2019Cited by 149
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type IjXiaohua Wu, Hudson H. Freeze, Jeffrey S. Rush et al.|Human Mutation|2003Cited by 144
International consensus guidelines for phosphoglucomutase 1 deficiency (<scp>PGM1‐CDG</scp>): Diagnosis, follow‐up, and managementRuqaiah Altassan, Éva Morava, Silvia Radenkovic et al.|Journal of Inherited Metabolic Disease|2020Cited by 66
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot studySusan Sparks, William A. Gahl, Donna M. Krasnewich et al.|BMC Neurology|2007Cited by 60