Congenital Disorder of Glycosylation
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1730-1
Reference12 articles.
1. Coman D, McGill J, MacDonald R, Morris D, Klingberg S, Jaeken J, Appleton D (2007) Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype. J Clin Neurosci 14:668–672
2. Coman D, Irving M, Kannu P, Jaeken J, Savarirayan R (2008) The skeletal manifestations of the congenital disorders of glycosylation. Clin Genet 73:507–515. https://doi.org/10.1111/j.1399-0004.2008.01015.x
3. Jaeken J, van Eijk HG, van der Heul C, Corbeel L, Eeckels R, Eggermont E (1984) Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 144:245–247
4. Krasnewich D, O’Brien K, Sparks S (2007) Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia). Am J Med Genet C Semin Med Genet 145C:302–306. https://doi.org/10.1002/ajmg.c.30143
5. Krasnewich DM, Lam C, Ferreira C (2021) Overview of congenital disorders of glycosylation. In: Hahn S (ed) UpToDate. Waltham
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