{"doi":"10.1016/j.jpeds.2019.09.036","title":"Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots","abstract":null,"journal":"The Journal of Pediatrics","year":2020,"id":669765,"datarank":1.5472385497338308,"base_score":3.784189633918261,"endowment":3.784189633918261,"self_citation_contribution":0.5676284450877392,"citation_network_contribution":0.9796101046460916,"self_endowment_contribution":0.5676284450877392,"citer_contribution":0.9796101046460916,"corpus_percentile":null,"corpus_rank":null,"citation_count":43,"citer_count":31,"citers_with_citation_signal":24,"citers_with_endowment":24,"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":1559457,"name":"Susan Elliott","orcid":null,"position":1,"is_corresponding":false},{"id":310973,"name":"Xinying Hong","orcid":"0000-0002-7517-5193","position":2,"is_corresponding":false},{"id":1749268,"name":"Jie-Yu Huang","orcid":null,"position":3,"is_corresponding":false},{"id":1749269,"name":"Arun Babu Kumar","orcid":null,"position":4,"is_corresponding":false},{"id":822616,"name":"Fan Yi","orcid":"0000-0002-0053-8105","position":5,"is_corresponding":false},{"id":389502,"name":"Nagendar Pendem","orcid":null,"position":6,"is_corresponding":false},{"id":1749270,"name":"Naveen Kumar Chennamaneni","orcid":null,"position":7,"is_corresponding":false},{"id":310980,"name":"Michael H. Gelb","orcid":"0000-0001-7000-5219","position":8,"is_corresponding":false},{"id":1749267,"name":"Clifford Ronald Scott","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots","abstract":"<h4>Objective</h4>To test, in a newborn screening (NBS) laboratory, the performance of liquid chromatography-tandem mass spectrometry (LC-MS/MS) to assay 5 enzymatic activities in dried blood spots (DBS) for NBS of 5 lysosomal storage diseases (mucopolysaccharidosis [MPS]-II, MPS-IIIB, MPS-IVA, MPS-VI, and MPS-VII).<h4>Study design</h4>Three mm punches from de-identified DBS were obtained from the Washington NBS laboratory and submitted to the 5-plex LC-MS/MS assay. Screen cut-offs were established by analyzing the enzymatic activity in patients confirmed to have the MPS disorder. DNA sequencing of the relevant gene was performed on a second DBS punch for all samples with enzyme activity below 10% of the mean daily activity.<h4>Results</h4>(1) For MPS-II, 18 below cut-off samples, 1 pathogenic genotype, and 2 \"high risk\" genotypes; (2) For MPS-IIIB, no below cut-off samples; (3) For MPS-IVA, 8 below cut-off samples, 4 non-pathogenic genotypes, 4 genotypes unobtainable; (4) For MPS-VI, 4 below cut-off samples and no high-risk genotypes; (5) For MPS-VII, 1 below cut-off sample confirmed by genotype and clinical report to be affected.<h4>Conclusions</h4>These results establish that the number of initial screen positive samples is low and manageable. Thus, population newborn screening for these conditions is feasible in a state newborn screening laboratory.","is_dataset_classified":null,"base_score":3.784189633918261,"endowment":3.784189633918261,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"31732130","pmcid":"PMC7159818","openalex_id":"https://openalex.org/W2986405473","authors":[],"funders":[{"funder_name":"NIDDK NIH HHS","grant_id":"R01 DK067859","title":null},{"funder_name":"University of Washington","grant_id":"","title":null}],"total_grants":2,"fwci":2.8772,"citation_percentile":0.9178669,"influential_citations":0,"citation_trend":[{"year":2018,"count":1},{"year":2020,"count":8},{"year":2021,"count":9},{"year":2022,"count":7},{"year":2023,"count":10},{"year":2024,"count":3},{"year":2025,"count":4},{"year":2026,"count":1}],"oa_status":"green","license":"https://www.elsevier.com/legal/tdmrep-license","oa_locations":[{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7159818","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7159818","host_type":"repository"},{"url":"https://api.elsevier.com/content/article/PII:S0022347619312028?httpAccept=text/xml","host_type":"publisher"},{"url":"https://api.elsevier.com/content/article/PII:S0022347619312028?httpAccept=text/plain","host_type":"publisher"},{"url":"https://doi.org/10.1016/j.jpeds.2019.09.036","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/31732130","host_type":"repository"},{"url":"http://europepmc.org/pmc/articles/PMC7159818","host_type":"repository"}],"fields_of_study":["Lysosomal Storage Disorders Research","Biomedical Research and Pathophysiology","Carbohydrate Chemistry and Synthesis","Chromatography, Liquid","Dried Blood Spot Testing","Humans","Infant, Newborn","Mucopolysaccharidoses","Neonatal Screening","Pilot Projects","Tandem Mass Spectrometry"],"mesh_terms":["Chromatography, Liquid","Humans","Infant, Newborn","Mucopolysaccharidoses","Pilot Projects","Neonatal Screening","Tandem Mass Spectrometry","Dried Blood Spot Testing"],"keywords":["Newborn screening","Dried blood spot","Dried blood","Medicine","Genotype","Mucopolysaccharidosis","Spots","Enzyme replacement therapy","Population","Chromatography","Mucopolysaccharidosis I","Internal medicine","Pathology","Pediatrics","Gene","Biology","Chemistry","Biochemistry","Disease","Tandem mass spectrometry","Dried Blood Spots","Inborn Errors Of Metabolism","Lysosomal Storage Diseases"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"refseq"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-15T03:50:46.955176Z","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":[]}