相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
Jaak Jaeken
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Mental Retardation, Growth Retardation, Unusual Nose, and Open Mouth: An Autosomal Recessive Entity
Fowzan S. Alkuraya
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
MGAT2 deficiency (CDG-IIa): The Life of J.
Paul de Cock et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism
V Cormier-Daire et al.
JOURNAL OF MEDICAL GENETICS (2000)