Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
about
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD)
P2860
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
@en
type
label
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
@en
prefLabel
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
@en
P2093
P2860
P50
P1476
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
@en
P2093
A J J Reuser
A T van der Ploeg
C I van Capelle
H Michelakakis
J C de Jongste
J C van der Meijden
J M P van den Hout
P2860
P2888
P356
10.1186/S13023-016-0442-Y
P577
2016-05-18T00:00:00Z
P6179
1037766830