(Q71865336)
Statements
Carbohydrate-deficient glycoprotein syndrome type II. An autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS) (English)
J H Charuk
J Tan
M Bernardini
S Haddad
R A Reithmeier
J Jaeken
1 reference