Further Delineation of the ALG9-CDG Phenotype
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Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/8904_2015_504
Reference14 articles.
1. Arndt T, Stanzel S, Sewell AC (2007) Paediatric age-dependent serum transferrin isoform distribution studied by HPLC. Clin Lab 53:575–582
2. Frank CG, Grubenmann CE, Eyaid W, Berger EG, Aebi M, Hennet T (2004) Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. Am J Hum Genet 75:146–150
3. Gillessen-Kaesbach G, Meinecke P, Garrett C et al (1993) New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects. Am J Med Genet 45:511–518
4. Höck M, Wegleiter K, Ralser E et al (2015) ALG8-CDG: novel patients and review of the literature. Orphanet J Rare Dis 10(1):73
5. Jaeken J (2013) Congenital disorders of glycosylation. Handb Clin Neurol 113:1737–1743
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