Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
about
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert groupPeriodic sound-based 6-minute walk test forpatients with Duchenne muscular dystrophy:a preliminary study.Prion protein scrapie and the normal cellular prion proteinHereditary myopathies with early respiratory insufficiency in adults.European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in children affected by Pompe Disease.Pompe disease in Austria: clinical, genetic and epidemiological aspects.Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD).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
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P2860
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Clinical and molecular aspects ...... res and response to treatment.
@en
type
label
Clinical and molecular aspects ...... res and response to treatment.
@en
prefLabel
Clinical and molecular aspects ...... res and response to treatment.
@en
P2093
P2860
P50
P1433
P1476
Clinical and molecular aspects ...... res and response to treatment.
@en
P2093
C Danesino
Federica Montagnese
O Musumeci
P De Filippi
P2860
P2888
P304
P356
10.1007/S00415-015-7664-0
P577
2015-02-12T00:00:00Z