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Journal of Medical Genetics logoLink to Journal of Medical Genetics
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. 2004 Jul;41(7):550–556. doi: 10.1136/jmg.2003.016923

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, G Matthijs
PMCID: PMC1735831  PMID: 15235028

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