J Med Genet. 2004 July; 41(7): 550–556. | PMCID: PMC1735831 |
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)
E Schollen, C Frank, L Keldermans, R Reyntjens, C Grubenmann, P Clayton, B Winchester, J Smeitink, R Wevers, M Aebi, T Hennet, and G Matthijs
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