The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients
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Identification of Atypical Peri-Nuclear Multivesicular Bodies in Oxidative and Glycolytic Skeletal Muscle of Aged and Pompe's Disease Mouse Models.Mitochondrial Uncoupler Prodrug of 2,4-Dinitrophenol, MP201, Prevents Neuronal Damage and Preserves Vision in Experimental Optic NeuritisPompe disease: from pathophysiology to therapy and back againPeripheral nerve and neuromuscular junction pathology in Pompe diseaseDefects in calcium homeostasis and mitochondria can be reversed in Pompe disease.Evaluating whole transcriptome amplification for gene profiling experiments using RNA-Seq.Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.The high correlation between counts and area fractions of lipofuscin granules, a biomarker of oxidative stress in muscular dystrophies.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.Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).Asymptomatic Pompe disease: Can muscle magnetic resonance imaging facilitate diagnosis?Optical prediction of single muscle fiber force production using a combined biomechatronics and second harmonic generation imaging approach
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The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 02 January 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The value of muscle biopsies i ...... nile- and adult-onset patients
@en
The value of muscle biopsies i ...... ile- and adult-onset patients.
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type
label
The value of muscle biopsies i ...... nile- and adult-onset patients
@en
The value of muscle biopsies i ...... ile- and adult-onset patients.
@nl
prefLabel
The value of muscle biopsies i ...... nile- and adult-onset patients
@en
The value of muscle biopsies i ...... ile- and adult-onset patients.
@nl
P2093
P2860
P50
P356
P1476
The value of muscle biopsies i ...... nile- and adult-onset patients
@en
P2093
Erin J Feeney
Evelyn Ralston
Hanna Mandel
Nina Raben
Priya S Kishnani
Sean Prater
Stephanie Austin
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P2888
P356
10.1186/2051-5960-2-2
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2014-01-02T00:00:00Z
P5875
P6179
1035479088