## Abstract Congenital disorders of glycosylation (CDG) are a group of metabolic disorders with multisystemic involvement characterized by abnormalities in the synthesis of Nβlinked oligosaccharides. The most common form, CDGβIa, resulting from mutations in the gene encoding the enzyme phosphomanno
Congenital generalized lipodystrophy in an Indian patient with a novel mutation inBSCL2gene
β Scribed by H. U. Shirwalkar; Z. M. Patel; J. Magre; P. Hilbert; L. Van Maldergem; R. R. Mukhopadhyay; A. Maitra
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 365 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0141-8955
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