Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.

Ferreira, H

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics. [electronic resource] - Molecular genetics and metabolism Jun 1999 - 131-7 p. digital

Publication Type: Case Reports; Journal Article

1096-7192

10.1006/mgme.1999.2852 doi


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