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

  • J Med Genet. 2004 Jul;41(7):550-6. doi: 10.1136/jmg.2003.016923.
E Schollen ,  C G Frank ,  L Keldermans ,  R Reyntjens ,  C E Grubenmann ,  P T Clayton ,  B G Winchester ,  J Smeitink ,  R A Wevers ,  M Aebi ,  T Hennet ,  G Matthijs
PMID: 15235028 DOI: 10.1136/jmg.2003.016923