意大利 Pompe 病新生儿筛查 : 长期结果和未来挑战。
关键词: Acid α-glucosidase CLIR, Collaborative Laboratory Integrated Reports CRIM, cross-reactive immunological material DBS, dried blood spot DMF, digital microfluidics ECG, electrocardiogram EF, ejection fraction EMG, electromyography ERT, enzyme replacement therapy Enzyme replacement therapy GAA, acid α-glucosidase GMFM-88, Gross Motor Function Measure Glc4, glucose tetrasaccharide IOPD, infantile-onset Pompe disease ITI, immunotolerance induction LOPD, late-onset Pompe disease LVMI, left ventricular max index MFM-20, motor function measurement MRC, Medical Research Council Scale MRI, magnetic resonance imaging MS/MS, tandem mass spectrometry NBS, newborn screening Newborn screening PBMC, peripheral blood mononuclear cells PD, Pompe disease PPV, positive predictive value Pompe disease RUSP, Recommended Uniform Screening Panel Tandem mass-spectrometry Urinary tetrasaccharide VUS, variants of uncertain significance. nv, normal values rhGAA, recombinant human GAA
来 源:
DOI:10.1016/j.ymgmr.2022.100929
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