{"doi":"10.1016/j.jpeds.2023.113644","title":"First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California","abstract":null,"journal":"The Journal of Pediatrics","year":2023,"id":635140,"datarank":0.3596842909197557,"base_score":2.3978952727983707,"endowment":2.3978952727983707,"self_citation_contribution":0.3596842909197557,"citation_network_contribution":0.0,"self_endowment_contribution":0.3596842909197557,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":10,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1647692,"name":"Jamie Matteson","orcid":null,"position":1,"is_corresponding":false},{"id":775995,"name":"Hao Tang","orcid":"0000-0003-4373-6248","position":2,"is_corresponding":false},{"id":89992,"name":"Deepika Mathur","orcid":"0000-0002-2591-4170","position":3,"is_corresponding":false},{"id":1647693,"name":"Rana Zahedi","orcid":null,"position":4,"is_corresponding":false},{"id":1647694,"name":"Indranil Sen","orcid":null,"position":5,"is_corresponding":false},{"id":1193873,"name":"Tracey Bishop","orcid":"0000-0003-0795-7828","position":6,"is_corresponding":false},{"id":1647695,"name":"Partha Neogi","orcid":null,"position":7,"is_corresponding":false},{"id":1647696,"name":"Lisa Feuchtbaum","orcid":null,"position":8,"is_corresponding":false},{"id":1448956,"name":"Richard S. Olney","orcid":null,"position":9,"is_corresponding":false},{"id":939060,"name":"Stanley Sciortino","orcid":"0000-0002-6191-8179","position":10,"is_corresponding":false},{"id":1647691,"name":"Toki Fillman","orcid":"0009-0005-5404-6623","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California","abstract":"<h4>Objective</h4>To report on the first 3 years of mucopolysaccharidosis type I (MPS I) newborn screening (NBS) in the large and diverse state of California.<h4>Study design</h4>The California Genetic Disease Screening Program began universal NBS for MPS I on August 29, 2018. The screening uses a 2-tiered approach: an α-L-iduronidase (IDUA) enzyme activity assay followed by DNA sequencing for variants in the IDUA gene.<h4>Results</h4>As of August 29, 2021, 1 295 515 California newborns were screened for MPS I. In tier 1 of screening, 329 (0.025%) had an IDUA enzyme measurement below the cutoff and underwent tier-2 IDUA DNA sequencing. After tier 2, 146 (0.011%) newborns were screen positive, all of whom were referred to a metabolic Special Care Center for follow-up. After long-term follow-up, 7 cases were resolved as severe MPS I (Hurler syndrome) and 2 cases as attenuated MPS I for an MPS I birth prevalence of 1/143 946. DNA sequencing identified 107 unique IDUA variants among a total of 524 variants; 65% were known pseudodeficiency alleles, 25% were variants of uncertain significance, and 10% were pathogenic variants.<h4>Conclusions</h4>As a result of a 2-tiered NBS approach, 7 newborns diagnosed with Hurler syndrome had received early treatment for MPS I. Continuation of California's long-term follow-up program will be crucial for further understanding the complex genotype-phenotype relationships of MPS I.","is_dataset_classified":null,"base_score":2.3978952727983707,"endowment":2.3978952727983707,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"37516270","pmcid":null,"openalex_id":"https://openalex.org/W4385351351","authors":[],"funders":[],"total_grants":0,"fwci":1.5811,"citation_percentile":0.83378951,"influential_citations":0,"citation_trend":[{"year":2023,"count":1},{"year":2024,"count":3},{"year":2025,"count":3},{"year":2026,"count":3}],"oa_status":"closed","license":"https://www.elsevier.com/legal/tdmrep-license","oa_locations":[{"url":"https://api.elsevier.com/content/article/PII:S0022347623005073?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0022347623005073?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.jpeds.2023.113644","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/37516270","host_type":"repository"}],"fields_of_study":["Lysosomal Storage Disorders Research","Carbohydrate Chemistry and Synthesis","Infant Nutrition and Health"],"mesh_terms":["Alleles","Genetic Testing","Humans","Iduronidase","Infant, Newborn","Mucopolysaccharidosis I","Neonatal Screening"],"keywords":["Medicine","Mucopolysaccharidosis","Newborn screening","Mucopolysaccharidosis type I","Mucopolysaccharidosis type II","Pediatrics","Mucopolysaccharidosis I","Internal medicine","Disease","Enzyme replacement therapy","NBS","Lysosomal Storage Disorder","Α-l-iduronidase","Idua","Newborn Dried Blood Spot"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-06T14:42:39.840739Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}