Phosphomannomutase deficiency is the main cause of carbohydrate‐deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

References

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	Year	Citations
Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I Emile Van Schaftingen, Jaak Jaeken FEBS Letters	1995	357
Carbohydrate deficient glycoprotein (CDG) syndrome type I. Jaak Jaeken, Gert Matthijs, Rita Barone, Journal of Medical Genetics	1997	191
Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome Peter T. Clayton, Bryan Winchester, Geoffrey Keir Journal of Inherited Metabolic Disease	1992	70
The carbohydrate deficient glycoprotein syndrome in three Japanese children Kousaku Ohno, Isao Yuasa, Shinjiro Akaboshi, Brain and Development Metabolic SyndromeNutritionJapanese ChildrenMetabolic DisorderDiabetes	1992	54
Congenital nephrotic syndrome: A novel phenotype of type I carbohydrate‐deficient glycoprotein syndrome Marjo S. van der Knaap, Ron A. Wevers, L.A.H. Monnens, Journal of Inherited Metabolic Disease	1996	46
Carbohydrate‐deficient glycoprotein syndrome with previously unreported features François Eyskens, C. Ceuterick, J. C. MARTIN, Acta Paediatrica	1994	37
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I Agata Fiumara, Rita Barone, Renata Rizzo, Journal of Neurology GlycoproteomicsMedicineGeneticsPathogenesisGlycobiology	1996	24
Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome. M. Pineda, C Pavía, Marta Vilaseca, Archives of Disease in Childhood GlycoproteomicsNormal Pubertal DevelopmentUrologyDeficient Glycoprotein SyndromeBiochemical Characteristics	1996	15
Congenital cataract and familial brachydactyly in carbohydrate‐deficient glycoprotein syndrome Daniela Skladal, Wolfgang Sperl, Hugues Henry, Journal of Inherited Metabolic Disease Congenital CataractOcular DiseaseOphthalmologyGlycobiologyMedicine	1996	12

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