Pompe disease: early diagnosis and early treatment make a difference.
about
Enzyme replacement therapy for infantile-onset Pompe diseaseLiquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.Pompe disease: from pathophysiology to therapy and back againPompe disease: literature review and case seriesComparative impact of AAV and enzyme replacement therapy on respiratory and cardiac function in adult Pompe miceCorrecting Neuromuscular Deficits With Gene Therapy in Pompe DiseaseEnzymatic Screening and Diagnosis of Lysosomal Storage DiseasesDivergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.Cystic fibrosis newborn screening: a model for neuromuscular disease screening?Late-onset pompe disease in Iran: A clinical and genetic report.An 18-Month-Old Child with Infantile Pompe Disease: Oral Signs.Clinical features of Pompe diseaseMuscle ultrasound: A useful tool in newborn screening for infantile onset pompe disease.ECM-Related Myopathies and Muscular Dystrophies: Pros and Cons of Protein Therapies.The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.Enzyme replacement therapy for infantile-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.Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy.Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes.Evaluation prevalence of Pompe disease in Iranian patients with myopathies of unknown etiology.Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry.A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy.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
Pompe disease: early diagnosis and early treatment make a difference.
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artículo científico
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name
Pompe disease: early diagnosis and early treatment make a difference.
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type
label
Pompe disease: early diagnosis and early treatment make a difference.
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prefLabel
Pompe disease: early diagnosis and early treatment make a difference.
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P50
P1476
Pompe disease: early diagnosis and early treatment make a difference
@en
P2093
Ni-Chung Lee
Yin-Hsiu Chien
P304
P356
10.1016/J.PEDNEO.2013.03.009
P577
2013-04-28T00:00:00Z