Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Mol Genet Metab Rep
; 33: 100929, 2022 Dec.
Article
en En
| MEDLINE
| ID: mdl-36310651
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
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Idioma:
En
Revista:
Mol Genet Metab Rep
Año:
2022
Tipo del documento:
Article
País de afiliación:
Italia