{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T20:33:59Z","timestamp":1781555639962,"version":"3.54.5"},"reference-count":16,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T00:00:00Z","timestamp":1665446400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>It has recently been announced that the Secretary of the U.S. Department of Health and Human Services has approved the recommendation by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to add mucopolysaccharidosis type II (MPS-II, Hunter Syndrome) to the recommended uniform screening panel (RUSP) in the United States [...]<\/jats:p>","DOI":"10.3390\/ijns8040055","type":"journal-article","created":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T22:18:13Z","timestamp":1665526693000},"page":"55","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Addition of MPS-II to the Recommended Uniform Screening Panel in the United States"],"prefix":"10.3390","volume":"8","author":[{"given":"David","family":"Millington","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27709, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8331-9804","authenticated-orcid":false,"given":"Can","family":"Ficicioglu","sequence":"additional","affiliation":[{"name":"Section of Biochemical Genetics, Division of Genetics, Children\u2019s Hospital of Philadelphia, Philadelphia, PA 19104, USA"},{"name":"Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,11]]},"reference":[{"key":"ref_1","unstructured":"(2022, September 15). DHHS adds MPS II to the RUSP for Newborn Screening in the United States. Available online: https:\/\/mpssociety.org\/dhhs-adds-mps-ii-to-the-rusp-for-newborn-screening-in-the-united-states."},{"key":"ref_2","unstructured":"(2022, September 20). Newborn Screening Status for All Disorders. Available online: https:\/\/www.newsteps.org\/resources\/data-visualizations\/newborn-screening-status-all-disorders."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Burton, B.K., Hickey, R., and Hitchins, L. (2020). Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6030073"},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Bilyeu, H., Washburn, J., Vermette, L., and Klug, T. (2020). Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II. Int. J. Neonatal Screen., 6.","DOI":"10.3390\/ijns6040079"},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Lin, H.-Y., Chang, Y.-H., Lee, C.-L., Tu, Y.-R., Lo, Y.-T., Hung, P.-W., Niu, D.-M., Liu, M.-Y., Liu, H.-Y., and Chen, H.-J. (2022). Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan. J. Pers. Med., 12.","DOI":"10.3390\/jpm12071023"},{"key":"ref_6","unstructured":"(2022, September 15). Nominate a Condition, Available online: https:\/\/www.hrsa.gov\/advisory-committees\/heritable-disorders\/rusp\/nominate."},{"key":"ref_7","unstructured":"(2022, September 15). Summary of Nominated Conditions to the Recommended Uniform Screening Panel (RUSP), Available online: https:\/\/www.hrsa.gov\/sites\/default\/files\/hrsa\/advisory-committees\/heritable-disorders\/summary-nominated-conditions-may-2022.pdf."},{"key":"ref_8","unstructured":"(2022, September 15). Advisory Committee on Heritable Disorders in Newborns and Children Votes to Approve MPS II for Recommended Uniform Screening Panel. Available online: https:\/\/mpssociety.org\/wp-content\/uploads\/2022\/02\/2-11-2022-MPS-II-RUSP-Announcement-Final.pdf."},{"key":"ref_9","unstructured":"(2022, September 15). The Recommended Uniform Screening Panel. Available online: https:\/\/babysfirsttest.org\/newborn-screening\/the-recommended-uniform-screening-panel."},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Wilcken, B. (2018). Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come?. Int. J. Neonatal Screen., 4.","DOI":"10.3390\/ijns4030021"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1007\/s40265-019-01147-4","article-title":"Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments","volume":"79","author":"Sawamoto","year":"2019","journal-title":"Drugs"},{"key":"ref_12","first-page":"99","article-title":"Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age","volume":"14","author":"Lampe","year":"2014","journal-title":"J. Inherit. Metab. Dis. Rep."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"5100","DOI":"10.2174\/1381612826666200724161504","article-title":"Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease)","volume":"26","author":"Kubaski","year":"2020","journal-title":"Curr. Pharm. Des."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Giugliani, R., Martins, A.M., Okuyama, T., Eto, Y., Sakai, N., Nakamura, K., Morimoto, H., Minami, K., Yamamoto, T., and Yamaoka, M. (2021). Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data. Int. J. Mol. Sci., 22.","DOI":"10.20944\/preprints202109.0192.v1"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"eaay1163","DOI":"10.1126\/scitranslmed.aay1163","article-title":"Brain delivery and activity of a lysosomal enzyme using a blood-brain barrier transport vehicle in mice","volume":"12","author":"Ullman","year":"2020","journal-title":"Sci. Transl. Med."},{"key":"ref_16","first-page":"4S1","article-title":"RGX-121 gene therapy for the treatment of severe mucopolysaccharidosis type II (MPS II): Interim analysis of data from a Phase 1\/2 study","volume":"30","author":"Giugliani","year":"2022","journal-title":"Mol. Ther."}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/8\/4\/55\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:49:58Z","timestamp":1760143798000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/8\/4\/55"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,11]]},"references-count":16,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["ijns8040055"],"URL":"https:\/\/doi.org\/10.3390\/ijns8040055","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,11]]}}}