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Cutaneous Findings in Congenital Disorders of Glycosylation: The Hanging Fat Sign

✍ Scribed by Jon A. Dyer; Cleome J. Winters; Sarah L. Chamlin


Book ID
109089928
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
60 KB
Volume
22
Category
Article
ISSN
0736-8046

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## Abstract Congenital disorders of glycosylation are a rapidly growing group of inherited (neuro)metabolic disorders characterized by defects in glycosylation of proteins and lipids. This study discusses an analytical problem in the differentiation between hypoglycosylation and transferrin (Tf) pr