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. 2009 Sep;1792(9):825-6.
doi: 10.1016/j.bbadis.2009.08.005.

CDG nomenclature: time for a change!

Jaak Jaeken  1 , Thierry Hennet, Gert Matthijs, Hudson H Freeze
Affiliations

CDG nomenclature: time for a change!

Jaak Jaeken et al. Biochim Biophys Acta. 2009 Sep.
No abstract available

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References

    1. Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, et al. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulfatase A and increased CSF protein: a new syndrome. Pediatr Res. 1980;14:179.
    1. Freeze HH. Genetic defects in the human glycome. Nat Rev Genet. 2006;7:537–551. - PubMed
    1. Jaeken J, Matthijs G. Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet. 2007;8:261–278. - PubMed
    1. Jaeken J, van Eijk HG, van der Heul C, Corbeel L, Eeckels R, Eggermont E. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta. 1984;144:245–247. - PubMed
    1. Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett. 1995;377:318–320. - PubMed

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