2. Academic Validation
  3. Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

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
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