Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

Schollen, E., Frank, C., Keldermans, L., Reyntjens, R., Grubenmann, C., Clayton, P., Winchester, B., Smeitink, J., Wevers, R., Aebi, M., Hennet, T., & Matthijs, G. (2004). Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics, 41(7), 550-556. https://doi.org/10.1136/jmg.2003.016923 (Original work published 2004)