Phenotypical variation within 22 families with Pompe disease.

Phenotypical variation within 22 families with Pompe disease.

Item
http://www.wikidata.org/entity/Q30558083
GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.Genotype-phenotype correlation in Pompe disease, a step forward.Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.Childhood Pompe disease: clinical spectrum and genotype in 31 patients.Ethical considerations of population screening for late-onset genetic disease.An overview of muscle diseases presenting in adulthood.Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.Should patients with asymptomatic pompe disease be treated? A nationwide study in France.
P2860

Phenotypical variation within 22 families with Pompe disease.

Item
http://www.wikidata.org/entity/Q30558083
description
2013 nî lūn-bûn
@nan
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Phenotypical variation within 22 families with Pompe disease.
@ast
Phenotypical variation within 22 families with Pompe disease.
@en
type
label
Phenotypical variation within 22 families with Pompe disease.
@ast
Phenotypical variation within 22 families with Pompe disease.
@en
prefLabel
Phenotypical variation within 22 families with Pompe disease.
@ast
Phenotypical variation within 22 families with Pompe disease.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P932
P356
P1433
P1476
Phenotypical variation within 22 families with Pompe disease.
@en
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P932