The carbohydrate-deficient glycoprotein syndromes (CDGS) make up a recently delineated group of inherited metabolic diseases that are characterized by a reduction of the carbohydrate content of glycoproteins. They were first described by Jaeken in two sisters in 1980, but it was only after a second
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The rigid spine syndrome due to acid maltase deficiency
โ Scribed by Ricardo Fadic; Andrew J. Waclawik; Benjamin R. Brooks; Barend P. Lotz
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 355 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0148-639X
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