Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.
about
Genetic diseases that predispose to early liver cirrhosis.Glycogen Storage Disease Type IV and Early Implantation Defect: Early Trophoblastic Involvement Associated with a New GBE1 Mutation.Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.Analysis of mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review
P2860
Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.
description
2009 nî lūn-bûn
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2009年の論文
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name
Neuropathological study of ske ...... h a new mutation in GBE1 gene.
@en
Neuropathological study of ske ...... h a new mutation in GBE1 gene.
@nl
type
label
Neuropathological study of ske ...... h a new mutation in GBE1 gene.
@en
Neuropathological study of ske ...... h a new mutation in GBE1 gene.
@nl
prefLabel
Neuropathological study of ske ...... h a new mutation in GBE1 gene.
@en
Neuropathological study of ske ...... h a new mutation in GBE1 gene.
@nl
P2093
P2860
P50
P1476
Neuropathological study of ske ...... th a new mutation in GBE1 gene
@en
P2093
A Cappellini
C Lamperti
G Fagiolari
M E Fruguglietti
V Crugnola
P2860
P2888
P304
P356
10.1007/S10545-009-1134-8
P478
32 Suppl 1
P577
2009-04-08T00:00:00Z