المؤلفون: Vincenza, Gragnaniello, Pim W W M, Pijnappel, Alessandro P, Burlina, Stijn L M, In 't Groen, Daniela, Gueraldi, Chiara, Cazzorla, Evelina, Maines, Giulia, Polo, Leonardo, Salviati, Giovanni, Di Salvo, Alberto B, Burlina

المساهمون: Clinical Genetics, Pediatrics

المصدر: Molecular Genetics and Metabolism Reports, 33:100929. Elsevier

مصطلحات موضوعية: Newborn screening, electromyography, digital microfluidics, variants of uncertain significance, cross-reactive immunological material, Gross Motor Function Measure, DBS, Medical Research Council Scale, Endocrinology, EMG, NBS, IOPD, magnetic resonance imaging, GAA, immunotolerance induction, LVMI, left ventricular max index, ejection fraction, 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, 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, CLIR, peripheral blood mononuclear cells, rhGAA, CRIM, dried blood spot, MRC, LOPD, GMFM-88, PD, ERT, MRI, motor function measurement, PPV, Recommended Uniform Screening Panel, electrocardiogram, Glc4, late-onset Pompe disease, DMF, RUSP, nv, tandem mass spectrometry, Genetics, MS/MS, MFM-20, normal values, Molecular Biology, glucose tetrasaccharide, ECG, Collaborative Laboratory Integrated Reports, PBMC, EF, VUS, ITI, positive predictive value, infantile-onset Pompe disease, recombinant human GAA

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9cbaa38ae1a4fd14ae67719200c633
https://hdl.handle.net/11577/3468263

المؤلفون: Gragnaniello V; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy., Pijnappel PWWM; 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., Burlina AP; Neurology Unit, St Bassiano Hospital, 36061 Bassano del Grappa, Italy., In 't Groen SLM; 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., Gueraldi D; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy., Cazzorla C; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy., Maines E; Division of Pediatrics, S. Chiara General Hospital, Trento, Italy., Polo G; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy., Salviati L; Clinical Genetics Unit, Department of Women's and Children's Health, and Myology Center, University of Padova, Padova, Italy., Di Salvo G; Division of Paediatric Cardiology, Department of Women's and Children's Health, University Hospital Padua, Padua, Italy., Burlina AB; Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital, Padua, Italy.

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 Oct 22; Vol. 33, pp. 100929. Date of Electronic Publication: 2022 Oct 22 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE