Publication Information

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'treatment': [26, 199], 'can': [27], 'improve': [28, 201], 'outcomes.': [29], 'We': [30, 88], 'present': [31], 'our': [32, 80, 130], 'first': [33], '5': [34], 'years': [35], 'of': [36, 43, 97, 102, 110, 150, 183, 192, 204], 'experience': [37, 159], 'laboratory': [39], 'clinical': [41, 84, 148], 'management': [42], 'NBS': [44, 162, 196], 'for': [45, 82, 163], 'MPS': [46, 94, 164], 'I.': [47], 'Since': [48], '2015,': [49], 'we': [50, 105], 'have': [51], 'screened': [52], '160,011': [53], 'newborns': [54, 126], 'by': [55, 93], 'measuring': [56], 'α-L-iduronidase': [57], '(IDUA)': [58], 'activity': [59], 'and,': [60], 'since': [61], '2019,': [62], 'glycosaminoglycans': [63], '(GAGs)': [64], 'dried': [66], 'blood': [67], 'spot': [68], '(DBS)': [69], 'as': [70, 120, 178], 'second-tier': [72, 103, 122, 180], 'test.': [73, 181], 'Positive': [74], 'patients': [76, 91, 134], 'were': [77, 127, 135], 'referred': [78, 128], 'to': [79, 113, 129, 174, 200], 'clinic': [81], 'confirmatory': [83], 'molecular': [86], 'testing.': [87], 'found': [89, 106], 'two': [90, 185], 'affected': [92], '(incidence': [96], '1:80,005).': [98], 'Before': [99], 'the': [100, 147, 151, 155, 172, 184, 190, 202], 'introduction': [101], 'testing,': [104], 'high': [108], 'rate': [109], 'false-positives': [111], 'due': [112], 'pseudodeficiency.': [114], 'With': [115], 'GAG': [116, 176], 'analysis': [117], 'DBS': [119], 'test,': [123], 'no': [124], 'false-positive': [125], 'clinic.': [131], 'The': [132], 'confirmed': [133], 'treated': [137], 'enzyme': [139], 'replacement': [140], 'therapy': [141], 'bone-marrow': [143], 'transplantation.': [144], 'For': [145], 'both,': [146], 'outcome': [149, 203], 'disease': [152], 'normal': [156], 'range.': [157], 'Our': [158], 'confirms': [160, 189], 'that': [161], 'feasible': [167], 'effective,': [169], 'along': [170], 'need': [173], 'include': [175], 'assay': [177], 'Follow-up': [182], 'positive': [186], 'cases': [187], 'identified': [188], 'importance': [191], 'these': [205], 'patients.': [206]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W3096456408', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2023, 'cited_by_count': 5}, {'year': 2022, 'cited_by_count': 3}, {'year': 2021, 'cited_by_count': 4}, {'year': 2020, 'cited_by_count': 1}], 'updated_date': '2024-12-08T14:58:32.659050', 'created_date': '2020-11-09'}