{"id":"https://openalex.org/W7214885488","doi":"https://doi.org/10.3390/ijns12040080","title":"Newborn Screening for X-Linked Adrenoleukodystrophy: A Systematic Literature Review","display_name":"Newborn Screening for X-Linked Adrenoleukodystrophy: A Systematic Literature Review","publication_year":2026,"publication_date":"2026-09-30","ids":{"openalex":"https://openalex.org/W7214885488","doi":"https://doi.org/10.3390/ijns12040080","pmid":"https://pubmed.ncbi.nlm.nih.gov/42924757","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13692494"},"language":"en","primary_location":{"id":"doi:10.3390/ijns12040080","doi":"https://doi.org/10.3390/ijns12040080","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijns12040080","pdf_url":null,"source":{"id":"https://openalex.org/S2737512014","display_name":"International Journal of Neonatal Screening","issn_l":"2409-515X","issn":["2409-515X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Neonatal Screening","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.3390/ijns12040080","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5153683584","display_name":"Mar\u00eda Isabel Cabrera-Gonz\u00e1lez","orcid":"https://orcid.org/0009-0006-5303-7124","observed_orcids":["https://orcid.org/0009-0006-5303-7124"]},"institutions":[{"id":"https://openalex.org/I4210108548","display_name":"Hospital Regional Universitario de M\u00e1laga","ror":"https://ror.org/01mqsmm97","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210108548"]},{"id":"https://openalex.org/I4210149999","display_name":"Andalusian Centre for Nanomedicine and Biotechnology","ror":"https://ror.org/04enqja79","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210149999"]},{"id":"https://openalex.org/I4210164724","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga","ror":"https://ror.org/05n3asa33","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210164724"]},{"id":"https://openalex.org/I82767444","display_name":"Universidad de M\u00e1laga","ror":"https://ror.org/036b2ww28","country_code":"ES","type":"education","lineage":["https://openalex.org/I82767444"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Mar\u00eda Isabel Cabrera-Gonz\u00e1lez","raw_affiliation_strings":["Departamento de Biolog\u00eda Molecular y Bioqu\u00edmica, Universidad de M\u00e1laga, 29071 Malaga, Spain","Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga IBIMA Plataforma BIONAND, 29590 Malaga, Spain","Laboratorio de Metabolopat\u00edas y Cribado Neonatal, Hospital Regional Universitario de M\u00e1laga, 29011 Malaga, Spain"],"raw_orcid":"https://orcid.org/0009-0006-5303-7124","affiliations":[{"raw_affiliation_string":"Departamento de Biolog\u00eda Molecular y Bioqu\u00edmica, Universidad de M\u00e1laga, 29071 Malaga, Spain","institution_ids":["https://openalex.org/I82767444"]},{"raw_affiliation_string":"Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga IBIMA Plataforma BIONAND, 29590 Malaga, Spain","institution_ids":["https://openalex.org/I4210149999","https://openalex.org/I4210164724"]},{"raw_affiliation_string":"Laboratorio de Metabolopat\u00edas y Cribado Neonatal, Hospital Regional Universitario de M\u00e1laga, 29011 Malaga, Spain","institution_ids":["https://openalex.org/I4210108548"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073613092","display_name":"Yolanda de Diego\u2010Otero","orcid":"https://orcid.org/0000-0003-2384-8349","observed_orcids":["https://orcid.org/0000-0003-2384-8349"]},"institutions":[{"id":"https://openalex.org/I4210149999","display_name":"Andalusian Centre for Nanomedicine and Biotechnology","ror":"https://ror.org/04enqja79","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210149999"]},{"id":"https://openalex.org/I4210164724","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga","ror":"https://ror.org/05n3asa33","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210164724"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Yolanda De Diego-Otero","raw_affiliation_strings":["Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga IBIMA Plataforma BIONAND, 29590 Malaga, Spain"],"raw_orcid":"https://orcid.org/0000-0003-2384-8349","affiliations":[{"raw_affiliation_string":"Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga IBIMA Plataforma BIONAND, 29590 Malaga, Spain","institution_ids":["https://openalex.org/I4210149999","https://openalex.org/I4210164724"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5006696193","display_name":"Raquel Yahyaoui","orcid":"https://orcid.org/0000-0001-6789-1563","observed_orcids":["https://orcid.org/0000-0001-6789-1563"]},"institutions":[{"id":"https://openalex.org/I4210108548","display_name":"Hospital Regional Universitario de M\u00e1laga","ror":"https://ror.org/01mqsmm97","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210108548"]},{"id":"https://openalex.org/I4210149999","display_name":"Andalusian Centre for Nanomedicine and Biotechnology","ror":"https://ror.org/04enqja79","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210149999"]},{"id":"https://openalex.org/I4210164724","display_name":"Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga","ror":"https://ror.org/05n3asa33","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210164724"]},{"id":"https://openalex.org/I4405263657","display_name":"Universidad Europea de Andaluc\u00eda","ror":"https://ror.org/04b5d6z38","country_code":"ES","type":"education","lineage":["https://openalex.org/I4405263657"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Raquel Yahyaoui","raw_affiliation_strings":["Departamento de Biomedicina y Odontolog\u00eda, Facultad de Ciencias Biom\u00e9dicas y Deporte, Universidad Europea de Andaluc\u00eda, 29010 Malaga, Spain","Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga IBIMA Plataforma BIONAND, 29590 Malaga, Spain","Laboratorio de Metabolopat\u00edas y Cribado Neonatal, Hospital Regional Universitario de M\u00e1laga, 29011 Malaga, Spain"],"raw_orcid":"https://orcid.org/0000-0001-6789-1563","affiliations":[{"raw_affiliation_string":"Departamento de Biomedicina y Odontolog\u00eda, Facultad de Ciencias Biom\u00e9dicas y Deporte, Universidad Europea de Andaluc\u00eda, 29010 Malaga, Spain","institution_ids":["https://openalex.org/I4405263657"]},{"raw_affiliation_string":"Instituto de Investigaci\u00f3n Biom\u00e9dica de M\u00e1laga IBIMA Plataforma BIONAND, 29590 Malaga, Spain","institution_ids":["https://openalex.org/I4210149999","https://openalex.org/I4210164724"]},{"raw_affiliation_string":"Laboratorio de Metabolopat\u00edas y Cribado Neonatal, Hospital Regional Universitario de M\u00e1laga, 29011 Malaga, Spain","institution_ids":["https://openalex.org/I4210108548"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5153683584"],"corresponding_institution_ids":["https://openalex.org/I4210108548","https://openalex.org/I4210149999","https://openalex.org/I4210164724","https://openalex.org/I82767444"],"apc_list":{"value":1600,"currency":"CHF","value_usd":1930},"apc_paid":{"value":1600,"currency":"CHF","value_usd":1930},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.52564103,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"12","issue":"4","first_page":"80","last_page":"80"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/x-linked-adrenoleukodystrophy","display_name":"X-linked adrenoleukodystrophy","score":1.0},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.9950000047683716},{"id":"https://openalex.org/keywords/abcd1-gene","display_name":"ABCD1 gene","score":0.7879999876022339},{"id":"https://openalex.org/keywords/variants-of-uncertain-significance","display_name":"variants of uncertain significance","score":0.8930000066757202},{"id":"https://openalex.org/keywords/screening-performance","display_name":"screening performance","score":0.4749999940395355},{"id":"https://openalex.org/keywords/positive-predictive-value","display_name":"positive predictive value","score":0.7820000052452087},{"id":"https://openalex.org/keywords/presymptomatic-diagnosis","display_name":"presymptomatic diagnosis","score":0.7229999899864197},{"id":"https://openalex.org/keywords/peroxisomal-disorders","display_name":"peroxisomal disorders","score":0.843999981880188},{"id":"https://openalex.org/keywords/adrenal-insufficiency","display_name":"adrenal insufficiency","score":0.6679999828338623},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.5590000152587891}],"concepts":[{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.9074000120162964},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7189000248908997},{"id":"https://openalex.org/C2777150068","wikidata":"https://www.wikidata.org/wiki/Q366964","display_name":"Adrenoleukodystrophy","level":4,"score":0.6306999921798706},{"id":"https://openalex.org/C189708586","wikidata":"https://www.wikidata.org/wiki/Q1504425","display_name":"Systematic review","level":3,"score":0.6075000166893005},{"id":"https://openalex.org/C2779473830","wikidata":"https://www.wikidata.org/wiki/Q1540899","display_name":"MEDLINE","level":2,"score":0.4674000144004822},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4650999903678894},{"id":"https://openalex.org/C177713679","wikidata":"https://www.wikidata.org/wiki/Q679690","display_name":"Intensive care medicine","level":1,"score":0.45249998569488525},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.43369999527931213},{"id":"https://openalex.org/C2781317408","wikidata":"https://www.wikidata.org/wiki/Q3281322","display_name":"Peroxisomal disorder","level":4,"score":0.43130001425743103},{"id":"https://openalex.org/C3017516299","wikidata":"https://www.wikidata.org/wiki/Q886705","display_name":"Dried blood","level":2,"score":0.4009000062942505},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.39910000562667847},{"id":"https://openalex.org/C2776100374","wikidata":"https://www.wikidata.org/wiki/Q1821559","display_name":"Leukodystrophy","level":3,"score":0.3700000047683716},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.32350000739097595},{"id":"https://openalex.org/C95190672","wikidata":"https://www.wikidata.org/wiki/Q815382","display_name":"Meta-analysis","level":2,"score":0.31949999928474426},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.31119999289512634},{"id":"https://openalex.org/C63363279","wikidata":"https://www.wikidata.org/wiki/Q5133848","display_name":"Clinical significance","level":2,"score":0.3018999993801117},{"id":"https://openalex.org/C2909335157","wikidata":"https://www.wikidata.org/wiki/Q17162809","display_name":"Screening techniques","level":2,"score":0.298799991607666},{"id":"https://openalex.org/C3020067899","wikidata":"https://www.wikidata.org/wiki/Q1163564","display_name":"Screening test","level":2,"score":0.2948000133037567},{"id":"https://openalex.org/C138816342","wikidata":"https://www.wikidata.org/wiki/Q189603","display_name":"Public health","level":2,"score":0.2816999852657318},{"id":"https://openalex.org/C2778129406","wikidata":"https://www.wikidata.org/wiki/Q2507454","display_name":"Adrenal insufficiency","level":2,"score":0.28119999170303345},{"id":"https://openalex.org/C512399662","wikidata":"https://www.wikidata.org/wiki/Q3505712","display_name":"Family medicine","level":1,"score":0.2655999958515167}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.3390/ijns12040080","doi":"https://doi.org/10.3390/ijns12040080","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijns12040080","pdf_url":null,"source":{"id":"https://openalex.org/S2737512014","display_name":"International Journal of Neonatal Screening","issn_l":"2409-515X","issn":["2409-515X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Neonatal Screening","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13692494","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13692494/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13692494/pdf/IJNS-12-00080.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Int J Neonatal Screen","raw_type":"Text"},{"id":"pmid:42924757","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42924757","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International journal of neonatal screening","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.3390/ijns12040080","doi":"https://doi.org/10.3390/ijns12040080","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijns12040080","pdf_url":null,"source":{"id":"https://openalex.org/S2737512014","display_name":"International Journal of Neonatal Screening","issn_l":"2409-515X","issn":["2409-515X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-20","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Neonatal Screening","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/systematic-review","display_name":"Systematic Review"}],"awards":[{"id":"https://openalex.org/G2711950990","display_name":"Detecci\u00f3n precoz y tratamiento de ni\u00f1os afectados de adrenoleucodistrofia ligada al X: un estudio poblacional prospectivo","funder_award_id":"PI21/01042","funder_id":"https://openalex.org/F4320334923","funder_display_name":"Instituto de Salud Carlos III"}],"funders":[{"id":"https://openalex.org/F4320334923","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7214885488.pdf","grobid_xml":"https://content.openalex.org/works/W7214885488.grobid-xml"},"referenced_works_count":35,"referenced_works":["https://openalex.org/W1974733334","https://openalex.org/W2009740675","https://openalex.org/W2043030037","https://openalex.org/W2048923486","https://openalex.org/W2073937441","https://openalex.org/W2106485907","https://openalex.org/W2150643970","https://openalex.org/W2154833816","https://openalex.org/W2466367464","https://openalex.org/W2560085362","https://openalex.org/W2893932486","https://openalex.org/W2916744594","https://openalex.org/W2935904135","https://openalex.org/W2944092451","https://openalex.org/W3003384135","https://openalex.org/W3021566002","https://openalex.org/W3028617995","https://openalex.org/W3036445007","https://openalex.org/W3093730151","https://openalex.org/W3134540784","https://openalex.org/W3154609564","https://openalex.org/W3194112496","https://openalex.org/W4205676160","https://openalex.org/W4210270028","https://openalex.org/W4220711884","https://openalex.org/W4224780977","https://openalex.org/W4295901830","https://openalex.org/W4297989795","https://openalex.org/W4306731127","https://openalex.org/W4385543657","https://openalex.org/W4388686827","https://openalex.org/W4392560251","https://openalex.org/W4412644604","https://openalex.org/W4414475018","https://openalex.org/W7128551224"],"related_works":["https://openalex.org/W4388561476","https://openalex.org/W4220711884","https://openalex.org/W4414475018","https://openalex.org/W2944092451","https://openalex.org/W4205676160","https://openalex.org/W4388303601","https://openalex.org/W2759828232","https://openalex.org/W4324117003","https://openalex.org/W4224780977","https://openalex.org/W3003384135"],"abstract_inverted_index":{"X-linked":[0],"adrenoleukodystrophy":[1],"(X-ALD)":[2],"is":[3],"the":[4,47,92,173,207,216],"most":[5],"common":[6],"leukodystrophy":[7],"and":[8,63,72,83,107,136,162,184,196,203,222,229,242,252],"peroxisomal":[9],"disorder.":[10],"It":[11],"was":[12,98],"added":[13],"to":[14,45,116,125,225,248],"newborn":[15],"screening":[16,31,55,57,105,119,132,137,198,237],"(NBS)":[17],"programs":[18,79,87],"following":[19],"its":[20,223],"first":[21],"implementation":[22,49],"in":[23,26,100,129,177],"New":[24],"York":[25],"2013.":[27],"Since":[28],"then,":[29],"X-ALD":[30,210,221],"has":[32],"expanded":[33],"rapidly,":[34],"although":[35,95],"important":[36],"differences":[37,128,193],"exist":[38],"among":[39],"programs.":[40],"This":[41],"systematic":[42,68],"review":[43],"aimed":[44],"evaluate":[46],"global":[48],"of":[50,70,140,147,175,209,218,236],"NBS":[51,78,176,219],"for":[52,145,159,181,220],"X-ALD,":[53],"including":[54],"methodologies,":[56,102],"performance,":[58],"prevalence":[59],"estimates,":[60],"genetic":[61,160],"findings,":[62,154],"clinical":[64,163,202,231,253],"follow-up":[65,108],"outcomes.":[66],"A":[67],"search":[69],"PubMed":[71],"EMBASE":[73],"identified":[74,166],"13":[75],"publications":[76],"describing":[77],"conducted":[80],"between":[81,194],"2013":[82],"June":[84],"2026.":[85],"All":[86],"used":[88],"C26:0-lysophosphatidylcholine":[89],"(C26:0-LPC)":[90],"as":[91],"primary":[93],"biomarker,":[94],"substantial":[96],"heterogeneity":[97],"observed":[99],"analytical":[101],"cut-off":[103],"values,":[104],"algorithms,":[106],"strategies.":[109],"Positive":[110],"predictive":[111],"values":[112],"ranged":[113],"from":[114,123],"9.1%":[115],"100%,":[117],"while":[118],"detection":[120],"rates":[121],"varied":[122],"1:3118":[124],"1:51,081,":[126],"reflecting":[127],"study":[130],"design,":[131],"population,":[133],"sample":[134],"size,":[135],"approaches.":[138],"Variants":[139],"uncertain":[141],"significance":[142],"(VUS)":[143],"accounted":[144],"52.6%":[146],"individuals":[148],"detected":[149],"with":[150],"classified":[151],"ABCD1":[152],"variant":[153,240],"representing":[155],"a":[156],"major":[157],"challenge":[158],"counseling":[161],"management.":[164],"Most":[165],"newborns":[167],"were":[168],"asymptomatic":[169],"at":[170],"diagnosis,":[171],"supporting":[172],"role":[174],"enabling":[178],"early":[179,230],"surveillance":[180],"adrenal":[182],"insufficiency":[183],"cerebral":[185],"disease":[186],"before":[187],"irreversible":[188],"manifestations":[189],"occur.":[190],"In":[191],"addition,":[192],"universal":[195],"sex-specific":[197],"strategies":[199],"highlight":[200],"ongoing":[201],"ethical":[204],"debates":[205],"regarding":[206],"scope":[208],"NBS.":[211],"Overall,":[212],"current":[213],"evidence":[214],"supports":[215],"feasibility":[217],"ability":[224],"enable":[226],"presymptomatic":[227],"ascertainment":[228],"surveillance;":[232],"however,":[233],"greater":[234],"harmonization":[235],"protocols,":[238],"improved":[239],"interpretation,":[241],"long-term":[243],"outcome":[244],"studies":[245],"are":[246],"needed":[247],"optimize":[249],"program":[250],"performance":[251],"benefit.":[254]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-10-01T00:00:00"}