Congenital Disorders of Glycosylation: Diagnostic steps - ERNDIM

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Exit Exit More options in the Golgi - M M M - CMP- - - M M M CMP- UDP CMP CMP Cytoplasm M M M M M M - Golgi UDP UDP UDP UDP M M M M M GDP UDP UDP M M M M M N O
Isoelectric focusing <strong>of</strong> serum apolipoproteinC-III Core 1 mucin type O-glycan in position Thr-94 pH 3.5 pH 5.0 Apo CIII - 2 Apo CIII - 1 Apo CIII - 0 Wopereis et al. Clin Chem 2003;49(11):1839-45. - - -
Page 1 and 2: - N - Congenital Disorders of Glyco
Page 3 and 4: General principle of Congenital Dis
Page 5 and 6: Glycoprotein Function • Protein s
Page 7 and 8: Clinical aspects of Congenital Diso
Page 9 and 10: M M M M M M M M M Ii Fru-6-P Man-6-
Page 11 and 12: Nomenclature changes in CDG • 199
Page 13 and 14: Transferrin protein polymorphism La
Page 15 and 16: Escape of the CDG-I vs CDG-II class
Page 17 and 18: Stage 2: CDG-II diagnostic work-up
Page 19: Glycan types • N-glycosylation: a
Page 23 and 24: Exit Exit Options for a combined N+
Page 25 and 26: Golgi defects Conserved Oligomeric
Page 27 and 28: Model of COG complex X cog2 2 cog7
Page 29 and 30: ATP6V0A2 and glycosylation? •

Congenital Disorders of Glycosylation: Diagnostic steps - ERNDIM

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