Newborn screening for Pompe disease in Italy: Long-term results and future challenges.

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第一作者： Vincenza,Gragnaniello

第一单位： Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.

作者： Vincenza,Gragnaniello ^[1] ; Pim W W M,Pijnappel ^[2] ; Alessandro P,Burlina ^[3] ; Stijn L M,In 't Groen ^[2] ; Daniela,Gueraldi ^[1] ; Chiara,Cazzorla ^[1] ; Evelina,Maines ^[4] ; Giulia,Polo ^[1] ; Leonardo,Salviati ^[5] ; Giovanni,Di Salvo ^[6] ; Alberto B,Burlina ^[1]

作者单位： Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy. ^[1] Department of Pediatrics, Erasmus University Medical Center, Rotterdam, the Netherlands.;Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.;Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, the Netherlands. ^[2] Neurology Unit, St Bassiano Hospital, 36061 Bassano del Grappa, Italy. ^[3] Division of Pediatrics, S. Chiara General Hospital, Trento, Italy. ^[4] Clinical Genetics Unit, Department of Women's and Children's Health, and Myology Center, University of Padova, Padova, Italy. ^[5] Division of Paediatric Cardiology, Department of Women's and Children's Health, University Hospital Padua, Padua, Italy. ^[6]

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

DOI 10.1016/j.ymgmr.2022.100929

PMID 36310651

发布时间 2023-03-28

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Molecular genetics and metabolism reports

2022年33卷

100929页

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Newborn screening for Pompe disease in Italy: Long-term results and future challenges.

Molecular genetics and metabolism reports

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Newborn screening for Pompe disease in Italy: Long-term results and future challenges.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

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