Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.
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چکیده
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منابع مشابه
Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement.
Dr. Jaime Moritz Brum – Laboratório de Genética Bioquímica 00SMHS Quadra 501 Bloco A 70335-901 Brasília DF Brasil. E-mail: [email protected] Congenital disorders of glycosylation (CDG) are a group of severe, autosomal recessive, multisystemic diseases, characterized by abnormal glycosylation of glycoproteins and glycolipids. The first disease of this group was reported in 1980. Since then, at leas...
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ورودعنوان ژورنال:
- Clinical chemistry
دوره 47 1 شماره
صفحات -
تاریخ انتشار 2001