An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2017_35
Reference16 articles.
1. Calvo PL, Pagliardini S, Baldi M et al (2008) Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx. J Inherit Metab Dis 31(Suppl 2):S437–S440
2. Harrison H, Miller K (1992) Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis. Clin Chem 38:1390–1392
3. Henri H, Tissot JD, Messerli B et al (1997) Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: apparent deficiencies in clusterin and serum amyloid P. J Lab Clin Med 129:412–421
4. Heywood WE, Bliss E, Mills P et al (2016) Global serum glycoform profiling for the investigation of dystroglycanopathies § congenital disorders of glycosylation. Mol Genet Metab Rep 7:55–62
5. Jaeken J, Morava E (2016) Congenital disorders of glycosylation, dolichol and glycosylphosphatidylinositol metabolism. In: Saudubray JM, van den Berghe G, Walter JH (eds) Inborn metabolic diseases – diagnosis and treatment, 6th edn. Springer, Berlin
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