Reactome | Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

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Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction Show undefined attributes

author	[Person:9707855] Koehler, K [Person:9909223] Malik, M [Person:9909226] Mahmood, S [Person:9909219] Gie�elmann, S [Person:5603009] Beetz, C [Person:9856691] Hennings, JC [Person:9856716] Huebner, AK [Person:9845545] Grahn, A [Person:5609952] Reunert, J [Person:508084] N�rnberg, G [Person:3636857] Thiele, H [Person:1979914] Altm�ller, J [Person:417926] N�rnberg, P [Person:9909230] Mumtaz, R [Person:4420013] Babovic-Vuksanovic, D [Person:8877964] Basel-Vanagaite, L [Person:2537609] Borck, G [Person:9909229] Br�mswig, J [Person:9909231] M�hlenberg, R [Person:9909235] Sarda, P [Person:9909234] Sikiric, A [Person:8848064] Anyane-Yeboa, K [Person:6787430] Zeharia, A [Person:9909214] Ahmad, A [Person:9823092] Coubes, C [Person:5609964] Wada, Y [Person:449218] Marquardt, T [Person:5609954] Vanderschaeghe, D [Person:198497] Van Schaftingen, E [Person:9909233] Kurth, I [Person:9707854] Huebner, A [Person:2471695] H�bner, CA
created	[InstanceEdit:9909224] D'Eustachio, Peter, 2024-04-30
dbId	9909225
displayName	Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction
journal	Am J Hum Genet
modified	[InstanceEdit:9909236] D'Eustachio, Peter, 2024-04-30
pages	727-34
pubMedIdentifier	24035193
schemaClass	LiteratureReference
title	Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction
url	http://www.ncbi.nlm.nih.gov/pubmed/24035193
volume	93
year	2013

Referrals

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[Reaction:R-HSA-446221] GMPPB converts Mannose-1-phosphate to GDP-Mannose

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