Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. [electronic resource]
Producer: 19990712Description: 131-7 p. digitalISSN:- 1096-7192
- Abnormalities, Multiple -- enzymology
- Carbohydrate Epimerases -- antagonists & inhibitors
- Cells, Cultured
- Child
- Cytidine Monophosphate N-Acetylneuraminic Acid -- pharmacology
- Escherichia coli Proteins
- Female
- Fibroblasts -- enzymology
- Humans
- Intellectual Disability -- enzymology
- Metabolism, Inborn Errors -- enzymology
- N-Acetylneuraminic Acid -- metabolism
- Point Mutation
- Sialic Acids -- metabolism
- Subcellular Fractions -- enzymology
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Publication Type: Case Reports; Journal Article
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