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Summary
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (MODY6)
MODY6
606394
OMIM = Online Medalian Inheritance of Men
552
2q31.3
very rare
mutation in the NEUROD1 gene
symptoms
diabetes mellitus
laboratory finding
D-Glucose increasedblood
Literature
Voelker Cet al.Processing of N-linked carbohydrate chains in a patient with glucosidase I deficiency (CDG type IIb)Glycobiology128473-4832002
Ombrone D,et al.Expanded newborn screening by mass spectrometry: New tests, future perspectivesMass Spectrom Rev35171-842016