Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
about
Pompe disease: literature review and case seriesClinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patientsGlycogenosome accumulation in the arrector pili muscle in Pompe disease.Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease.Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel.Effect of Cadmium Ion on alpha-Glucosidase: An Inhibition Kinetics and Molecular Dynamics Simulation Integration Study.Late-onset pompe disease in Iran: A clinical and genetic report.Clinical features of Pompe diseaseEarly is better? A new algorithm for early diagnosis in late onset Pompe disease (LOPD).Screening for late-onset Pompe disease in western Denmark.Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.Evaluation prevalence of Pompe disease in Iranian patients with myopathies of unknown etiology.Fibromyalgia-like symptoms associated with irritable bowel syndrome: A challenging diagnosis of late-onset Pompe disease.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
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
description
2013 nî lūn-bûn
@nan
2013 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հուլիսին 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
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
@ast
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
@en
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
@nl
type
label
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
@ast
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
@en
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
@nl
prefLabel
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
@ast
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
@en
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
@nl
P1433
P1476
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays.
@en
P2093
John Vissing
Zoltan Lukacs
P304
P356
10.1001/2013.JAMANEUROL.486
P407
P577
2013-07-01T00:00:00Z