Congenital Disorders of Glycosylation: Diagnostic steps - ERNDIM

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Muscle (Dystroglycan, agrin) Glycoprotein hormones (LH/FSH/TSH) N-glycosylation: multisystemic Liver (transferrin) Coagulation (factor VII, IX, ATIII) Brain (MAG, P0, neurexin) N - - G G M M N M - - N G G M M Asn Asn N M
Clinical aspects of Congenital Disorders of Glycosylation Classical picture of CDG: • hypotonia/epilepsy/cerebellar atrophy, inverted nipples, fat pads, strabismus, feeding problems, ataxia, hypogonadism, mental retardation Control Patient
Page 1 and 2: - N - Congenital Disorders of Glyco
Page 3 and 4: General principle of Congenital Dis
Page 5: Glycoprotein Function • Protein s
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 and 20: Glycan types • N-glycosylation: a
Page 21 and 22: Isoelectric focusing of serum apoli
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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