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).
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R. Reithmeier | J. Jaeken | H. Schachter | J. Tan | J. Charuk | M. Bernardini | S. Haddad