Concepedia

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

J. Jaeken, J Artigas-Pallarés, Rita Barone, Agata Fiumara, Tom J. de Koning, Bwee Tien Poll‐The, J.F. de Rijk-van Andel, G. F. Hoffmann, Birgit Assmann, Ertan Mayatepek,

Journal of Inherited Metabolic Disease · 1997 · 66 citations · 9 references

DOI

Concepts

References

9

Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I

Emile Van Schaftingen, Jaak Jaeken · FEBS Letters · 1995 · 357 citations

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Jaak Jaeken, Gert Matthijs, Rita Barone et al. · Journal of Medical Genetics · 1997 · 191 citations · Full text

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 citations

The carbohydrate deficient glycoprotein syndrome in three Japanese children

Kousaku Ohno, Isao Yuasa, Shinjiro Akaboshi et al. · Brain and Development · 1992 · 54 citations

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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 et al. · Journal of Inherited Metabolic Disease · 1996 · 46 citations