{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:10:32Z","timestamp":1790820632260,"version":"4.1.0"},"reference-count":84,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100008373","name":"Takeda Pharmaceutical Company Limited","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008373","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100020595","name":"Taiwan Ministry of Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100020595","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital","doi-asserted-by":"publisher","award":["MMH-E-114-13"],"award-info":[{"award-number":["MMH-E-114-13"]}],"id":[{"id":"10.13039\/501100004861","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital","doi-asserted-by":"publisher","award":["MMH-MM-112-14"],"award-info":[{"award-number":["MMH-MM-112-14"]}],"id":[{"id":"10.13039\/501100004861","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital","doi-asserted-by":"publisher","award":["MMH-E 113-13"],"award-info":[{"award-number":["MMH-E 113-13"]}],"id":[{"id":"10.13039\/501100004861","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital","doi-asserted-by":"publisher","award":["MMH-E-112-13"],"award-info":[{"award-number":["MMH-E-112-13"]}],"id":[{"id":"10.13039\/501100004861","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital","doi-asserted-by":"publisher","award":["MMH-MM-113-13"],"award-info":[{"award-number":["MMH-MM-113-13"]}],"id":[{"id":"10.13039\/501100004861","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital","doi-asserted-by":"publisher","award":["MMH-E-115-13"],"award-info":[{"award-number":["MMH-E-115-13"]}],"id":[{"id":"10.13039\/501100004861","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","award":["IISR-2020-103277"],"award-info":[{"award-number":["IISR-2020-103277"]}],"id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004339","name":"Sanofi","doi-asserted-by":"publisher","award":["SGE-2019-12684"],"award-info":[{"award-number":["SGE-2019-12684"]}],"id":[{"id":"10.13039\/100004339","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2026,7]]},"DOI":"10.1016\/j.gim.2026.102596","type":"journal-article","created":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T16:07:17Z","timestamp":1778170037000},"page":"102596","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade"],"prefix":"10.1016","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9776-2092","authenticated-orcid":false,"given":"Chih-Kuang","family":"Chuang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan-Rong","family":"Tu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8178-6938","authenticated-orcid":false,"given":"Chung-Lin","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Ting","family":"Lo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Hui","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun-Yi","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei-Ying","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsin-Yun","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsiao-Jan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Min","family":"Kao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Yun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huey-Jane","family":"Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9619-0990","authenticated-orcid":false,"given":"Hsiang-Yu","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4023-5405","authenticated-orcid":false,"given":"Shuan-Pei","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gim.2026.102596_bib1","series-title":"Scriver\u2019s Online Metabolic and Molecular Bases of Inherited Disease","first-page":"2465","article-title":"The mucopolysaccharidoses","author":"Neufeld","year":"2001"},{"issue":"2","key":"10.1016\/j.gim.2026.102596_bib2","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/S0957-5839(97)80195-9","article-title":"Lysosomal disorders","volume":"7","author":"Besley","year":"1997","journal-title":"Curr Pediatr"},{"issue":"2","key":"10.1016\/j.gim.2026.102596_bib3","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/S0957-5839(96)80065-0","article-title":"Mucopolysaccharidoses","volume":"6","author":"Wraith","year":"1996","journal-title":"Curr Pediatr"},{"issue":"5","key":"10.1016\/j.gim.2026.102596_bib4","doi-asserted-by":"crossref","first-page":"S27","DOI":"10.1016\/j.jpeds.2004.01.052","article-title":"The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations","volume":"144","author":"Muenzer","year":"2004","journal-title":"J Pediatr"},{"issue":"10","key":"10.1016\/j.gim.2026.102596_bib5","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1136\/jmedgenet-2021-108061","article-title":"Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency","volume":"59","author":"Verheyen","year":"2022","journal-title":"J Med Genet"},{"issue":"4","key":"10.1016\/j.gim.2026.102596_bib6","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1111\/cge.13583","article-title":"Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): insights from the International MPS I Registry","volume":"96","author":"Clarke","year":"2019","journal-title":"Clin Genet"},{"issue":"3","key":"10.1016\/j.gim.2026.102596_bib7","doi-asserted-by":"crossref","first-page":"161","DOI":"10.3390\/diagnostics10030161","article-title":"Mucopolysaccharidosis Type I","volume":"10","author":"Kubaski","year":"2020","journal-title":"Diagnostics"},{"issue":"4","key":"10.1016\/j.gim.2026.102596_bib8","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.3390\/ijms21041258","article-title":"Mucopolysaccharidosis Type II: one hundred years of research, diagnosis, and treatment","volume":"21","author":"D\u2019Avanzo","year":"2020","journal-title":"Int J Mol Sci"},{"issue":"3","key":"10.1016\/j.gim.2026.102596_bib9","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/s00431-007-0635-4","article-title":"Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy","volume":"167","author":"Wraith","year":"2008","journal-title":"Eur J Pediatr"},{"issue":"3","key":"10.1016\/j.gim.2026.102596_bib10","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/ped.12636","article-title":"Sanfilippo syndrome: overall review","volume":"57","author":"Andrade","year":"2015","journal-title":"Pediatr Int"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib11","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/1750-1172-9-21","article-title":"Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA","volume":"9","author":"Lin","year":"2014","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"10.1016\/j.gim.2026.102596_bib12","doi-asserted-by":"crossref","first-page":"931","DOI":"10.2174\/138920111795542615","article-title":"Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment: a special review","volume":"12","author":"Tomatsu","year":"2011","journal-title":"Curr Pharm Biotechnol"},{"issue":"2","key":"10.1016\/j.gim.2026.102596_bib13","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/s10545-012-9459-0","article-title":"Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA","volume":"36","author":"Hendriksz","year":"2013","journal-title":"J Inherit Metab Dis"},{"issue":"12","key":"10.1016\/j.gim.2026.102596_bib14","doi-asserted-by":"crossref","first-page":"1788","DOI":"10.1002\/humu.23613","article-title":"Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: review and classification of published variants in the ARSB gene","volume":"39","author":"Tomanin","year":"2018","journal-title":"Hum Mutat"},{"issue":"6","key":"10.1016\/j.gim.2026.102596_bib15","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1136\/jmedgenet-2015-103322","article-title":"Clinical course of sly syndrome (mucopolysaccharidosis type VII)","volume":"53","author":"Monta\u00f1o","year":"2016","journal-title":"J Med Genet"},{"issue":"3","key":"10.1016\/j.gim.2026.102596_bib16","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1016\/j.jfma.2021.07.024","article-title":"The first mucopolysaccharidosis Type VII in a Taiwanese girl: a case report and review of the literature","volume":"121","author":"Lee","year":"2022","journal-title":"J Formos Med Assoc"},{"issue":"14","key":"10.1016\/j.gim.2026.102596_bib17","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1056\/NEJM199610033351405","article-title":"Clinical and biochemical manifestations of hyaluronidase deficiency","volume":"335","author":"Natowicz","year":"1996","journal-title":"N Engl J Med"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib18","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1186\/1750-1172-8-147","article-title":"A pilot newborn screening program for mucopolysaccharidosis type I in Taiwan","volume":"8","author":"Lin","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib19","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1186\/s13023-018-0816-4","article-title":"Status of newborn screening and follow up investigations for mucopolysaccharidoses I and II in Taiwan","volume":"13","author":"Chuang","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"9","key":"10.1016\/j.gim.2026.102596_bib20","doi-asserted-by":"crossref","first-page":"1583","DOI":"10.3390\/diagnostics11091583","article-title":"Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan And an update of the \u201cgold standard\u201d criteria required to make a confirmatory diagnosis","volume":"11","author":"Chuang","year":"2021","journal-title":"Diagnostics"},{"key":"10.1016\/j.gim.2026.102596_bib21","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.jpeds.2018.09.063","article-title":"Taiwan national newborn screening program by tandem mass spectrometry for mucopolysaccharidoses Types I, II, and VI","volume":"205","author":"Chan","year":"2019","journal-title":"J Pediatr"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib22","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1186\/1750-1172-8-189","article-title":"Natural history of Sanfilippo syndrome in Spain","volume":"8","author":"Delgadillo","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib23","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1186\/s13023-018-0796-4","article-title":"Epidemiology of Sanfilippo syndrome: results of a systematic literature review","volume":"13","author":"Zelei","year":"2018","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib24","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1186\/s13023-021-01880-8","article-title":"Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities","volume":"16","author":"Puckett","year":"2021","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"10.1016\/j.gim.2026.102596_bib25","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/j.ymgme.2017.05.016","article-title":"Epidemiology of mucopolysaccharidoses","volume":"121","author":"Khan","year":"2017","journal-title":"Mol Genet Metab"},{"issue":"7","key":"10.1016\/j.gim.2026.102596_bib26","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.3390\/jpm12071023","article-title":"Newborn screening program for mucopolysaccharidosis Type II and long-term follow-up of the screen-positive subjects in Taiwan","volume":"12","author":"Lin","year":"2022","journal-title":"J Pers Med"},{"issue":"7","key":"10.1016\/j.gim.2026.102596_bib27","doi-asserted-by":"crossref","first-page":"e226","DOI":"10.1016\/j.bbmt.2019.02.012","article-title":"Hematopoietic stem cell transplantation for mucopolysaccharidoses: past, present, and future","volume":"25","author":"Taylor","year":"2019","journal-title":"Biol Blood Marrow Transplant"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib28","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/1750-1172-6-55","article-title":"Enzyme replacement therapy and\/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure","volume":"6","author":"de Ru","year":"2011","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"10.1016\/j.gim.2026.102596_bib29","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1002\/mgg3.471","article-title":"The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses","volume":"6","author":"Lin","year":"2018","journal-title":"Mol Genet Genom Med"},{"issue":"3","key":"10.1016\/j.gim.2026.102596_bib30","doi-asserted-by":"crossref","first-page":"172","DOI":"10.3390\/diagnostics10030172","article-title":"Diagnosis of mucopolysaccharidoses","volume":"10","author":"Kubaski","year":"2020","journal-title":"Diagnostics"},{"issue":"suppl 2","key":"10.1016\/j.gim.2026.102596_bib31","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1186\/s13052-018-0553-2","article-title":"Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know","volume":"44","author":"Filocamo","year":"2018","journal-title":"Ital J Pediatr"},{"issue":"17","key":"10.1016\/j.gim.2026.102596_bib32","doi-asserted-by":"crossref","first-page":"9979","DOI":"10.3390\/ijms23179979","article-title":"Updated confirmatory diagnosis for mucopolysaccharidoses in Taiwanese infants and the application of gene variants","volume":"23","author":"Chuang","year":"2022","journal-title":"Int J Mol Sci"},{"issue":"12","key":"10.1016\/j.gim.2026.102596_bib33","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2024.101286","article-title":"Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan","volume":"26","author":"Lin","year":"2024","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib34","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1186\/s13023-020-01598-z","article-title":"Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985-2019)","volume":"15","author":"Lin","year":"2020","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"10.1016\/j.gim.2026.102596_bib35","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1002\/ajmg.a.32781","article-title":"Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004","volume":"149A","author":"Lin","year":"2009","journal-title":"Am J Med Genet A"},{"issue":"4","key":"10.1016\/j.gim.2026.102596_bib36","doi-asserted-by":"crossref","first-page":"91","DOI":"10.3390\/ijns6040091","article-title":"Newborn screening for mucopolysaccharidosis I: moving forward learning from experience","volume":"6","author":"Clarke","year":"2020","journal-title":"Int J Neonatal Screen"},{"issue":"2","key":"10.1016\/j.gim.2026.102596_bib37","doi-asserted-by":"crossref","first-page":"20","DOI":"10.3390\/ijns9020020","article-title":"Implementation of newborn screening for conditions in the United States first recommended during 2010-2018","volume":"9","author":"Singh","year":"2023","journal-title":"Int J Neonatal Screen"},{"key":"10.1016\/j.gim.2026.102596_bib38","doi-asserted-by":"crossref","DOI":"10.1016\/j.jpeds.2023.113644","article-title":"First 3 years\u2019 experience of mucopolysaccharidosis Type-I newborn screening in California","volume":"263","author":"Fillman","year":"2023","journal-title":"J Pediatr"},{"issue":"4","key":"10.1016\/j.gim.2026.102596_bib40","doi-asserted-by":"crossref","first-page":"55","DOI":"10.3390\/ijns8040055","article-title":"Addition of MPS-II to the Recommended Uniform Screening Panel in The United States","volume":"8","author":"Millington","year":"2022","journal-title":"Int J Neonatal Screen"},{"issue":"4","key":"10.1016\/j.gim.2026.102596_bib41","doi-asserted-by":"crossref","first-page":"71","DOI":"10.3390\/ijns10040071","article-title":"A systematic literature review on the global status of newborn screening for mucopolysaccharidosis II","volume":"10","author":"Ayodele","year":"2024","journal-title":"Int J Neonatal Screen"},{"issue":"1-2","key":"10.1016\/j.gim.2026.102596_bib42","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.ymgme.2013.06.007","article-title":"Newborn screening and diagnosis of mucopolysaccharidoses","volume":"110","author":"Tomatsu","year":"2013","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.gim.2026.102596_bib43","article-title":"Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan","volume":"37","author":"Hattori","year":"2023","journal-title":"Mol Genet Metab Rep"},{"issue":"4","key":"10.1016\/j.gim.2026.102596_bib44","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1080\/10408363.2021.2021846","article-title":"Newborn screening of mucopolysaccharidosis type I","volume":"59","author":"Burlina","year":"2022","journal-title":"Crit Rev Clin Lab Sci"},{"issue":"suppl 2","key":"10.1016\/j.gim.2026.102596_bib45","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1186\/s13052-018-0552-3","article-title":"Newborn screening in mucopolysaccharidoses","volume":"44","author":"Donati","year":"2018","journal-title":"Ital J Pediatr"},{"key":"10.1016\/j.gim.2026.102596_bib46","first-page":"23","article-title":"Newborn screening for hunter disease: a small-scale feasibility study","volume":"14","author":"Ruijter","year":"2014","journal-title":"JIMD Rep"},{"issue":"1-2","key":"10.1016\/j.gim.2026.102596_bib47","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/s004399900075","article-title":"The frequency of lysosomal storage diseases in the Netherlands","volume":"105","author":"Poorthuis","year":"1999","journal-title":"Hum Genet"},{"issue":"4","key":"10.1016\/j.gim.2026.102596_bib48","doi-asserted-by":"crossref","first-page":"90","DOI":"10.3390\/ijns6040090","article-title":"Neonatal screening for MPS disorders in Latin America: A survey of pilot initiatives","volume":"6","author":"Kubaski","year":"2020","journal-title":"Int J Neonatal Screen"},{"key":"10.1016\/j.gim.2026.102596_bib49","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.1053559","article-title":"Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America","volume":"13","author":"Giugliani","year":"2022","journal-title":"Front Genet"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib50","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1186\/s13023-022-02484-6","article-title":"Sanfilippo syndrome: consensus guidelines for clinical care","volume":"17","author":"Muschol","year":"2022","journal-title":"Orphanet J Rare Dis"},{"issue":"13","key":"10.1016\/j.gim.2026.102596_bib51","doi-asserted-by":"crossref","first-page":"281","DOI":"10.21037\/atm.2019.05.47","article-title":"Newborn screening: Taiwanese experience","volume":"7","author":"Chien","year":"2019","journal-title":"Ann Transl Med"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib52","first-page":"15","article-title":"Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and two-dimensional electrophoresis","volume":"64","author":"Chuang","year":"2001","journal-title":"Zhonghua Yi Xue Za Zhi (Taipei)"},{"issue":"4","key":"10.1016\/j.gim.2026.102596_bib53","doi-asserted-by":"crossref","first-page":"140","DOI":"10.3390\/diagnostics9040140","article-title":"An at-risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan","volume":"9","author":"Lin","year":"2019","journal-title":"Diagnostics"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib54","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1186\/s13023-014-0135-3","article-title":"A modified liquid chromatography\/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses","volume":"9","author":"Chuang","year":"2014","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib55","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.ymgme.2010.09.003","article-title":"Efficient analysis of urinary glycosaminoglycans by LC\u2013MS\/MS in mucopolysaccharidoses type I, II and VI","volume":"102","author":"Auray-Blais","year":"2011","journal-title":"Mol Genet Metab"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib56","first-page":"1","article-title":"Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis","volume":"9","author":"Lin","year":"2019","journal-title":"Sci Rep"},{"issue":"5","key":"10.1016\/j.gim.2026.102596_bib57","doi-asserted-by":"crossref","first-page":"294","DOI":"10.3390\/diagnostics10050294","article-title":"Emerging approaches for fluorescence-based newborn screening of mucopolysaccharidoses","volume":"10","author":"Singh","year":"2020","journal-title":"Diagnostics"},{"issue":"6","key":"10.1016\/j.gim.2026.102596_bib58","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1023\/A:1012763026526","article-title":"A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)","volume":"24","author":"Voznyi","year":"2001","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib59","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s40200-017-0319-1","article-title":"Diagnosing mucopolysaccharidosis type IV by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity","volume":"16","author":"Shams","year":"2017","journal-title":"J Diabetes Metab Disord"},{"key":"10.1016\/j.gim.2026.102596_bib60","first-page":"465","article-title":"Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots","volume":"1","author":"Ullal","year":"2014","journal-title":"Mol Genet Metab Rep"},{"issue":"5","key":"10.1016\/j.gim.2026.102596_bib61","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"issue":"D1","key":"10.1016\/j.gim.2026.102596_bib62","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res"},{"issue":"8","key":"10.1016\/j.gim.2026.102596_bib63","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1002\/humu.24309","article-title":"Variant interpretation using population databases: lessons from gnomAD","volume":"43","author":"Gudmundsson","year":"2022","journal-title":"Hum Mutat"},{"issue":"6","key":"10.1016\/j.gim.2026.102596_bib64","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.exphem.2015.02.006","article-title":"Digital PCR to assess hematopoietic chimerism after allogeneic stem cell transplantation","volume":"43","author":"Stahl","year":"2015","journal-title":"Exp Hematol"},{"issue":"5","key":"10.1016\/j.gim.2026.102596_bib65","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1515\/cclm-2018-0827","article-title":"Droplet digital PCR for the simultaneous analysis of minimal residual disease and hematopoietic chimerism after allogeneic cell transplantation","volume":"57","author":"Waterhouse","year":"2019","journal-title":"Clin Chem Lab Med"},{"key":"10.1016\/j.gim.2026.102596_bib66","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2023.1023116","article-title":"New methods for the quantification of mixed chimerism in transplantation","volume":"14","author":"Picard","year":"2023","journal-title":"Front Immunol"},{"issue":"4","key":"10.1016\/j.gim.2026.102596_bib67","doi-asserted-by":"crossref","first-page":"85","DOI":"10.3390\/ijns6040085","article-title":"Report of 5 years of experience in neonatal screening for mucopolysaccharidosis type I and review of the literature","volume":"6","author":"Gragnaniello","year":"2020","journal-title":"Int J Neonatal Screen"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib68","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1542\/peds.2008-0416","article-title":"International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I. Mucopolysaccharidosis I: management and treatment guidelines","volume":"123","author":"Muenzer","year":"2009","journal-title":"Pediatrics"},{"issue":"3","key":"10.1016\/j.gim.2026.102596_bib69","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2023.107698","article-title":"Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans","volume":"140","author":"Herbst","year":"2023","journal-title":"Mol Genet Metab"},{"issue":"suppl 5","key":"10.1016\/j.gim.2026.102596_bib70","doi-asserted-by":"crossref","first-page":"v4","DOI":"10.1093\/rheumatology\/ker394","article-title":"Overview of the mucopolysaccharidoses","volume":"50","author":"Muenzer","year":"2011","journal-title":"Rheumatology"},{"issue":"5","key":"10.1016\/j.gim.2026.102596_bib71","first-page":"453","article-title":"Measurement of heparan and dermatan sulfate-derived disaccharides in dried blood spots for newborn screening of mucopolysaccharidoses I, II, and III","volume":"87","author":"de Ru","year":"2012","journal-title":"Mayo Clin Proc"},{"issue":"4","key":"10.1016\/j.gim.2026.102596_bib72","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.ymgme.2012.09.024","article-title":"Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III","volume":"107","author":"de Ruijter","year":"2012","journal-title":"Mol Genet Metab"},{"issue":"3","key":"10.1016\/j.gim.2026.102596_bib73","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.ymgme.2016.01.011","article-title":"Enzyme replacement therapy prior to haematopoietic stem cell transplantation in mucopolysaccharidosis Type I: 10 year combined experience of 2 centres","volume":"117","author":"Ghosh","year":"2016","journal-title":"Mol Genet Metab"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib74","doi-asserted-by":"crossref","first-page":"114","DOI":"10.3390\/ijms21010114","article-title":"Identification and functional characterization of IDS gene mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II)","volume":"21","author":"Lin","year":"2020","journal-title":"Int J Mol Sci"},{"issue":"9","key":"10.1016\/j.gim.2026.102596_bib75","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0138622","article-title":"A multiplex assay for the diagnosis of mucopolysaccharidoses and mucolipidoses","volume":"10","author":"Langereis","year":"2015","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.gim.2026.102596_bib76","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/s41409-022-01579-9","article-title":"Chimerism analysis for clinicians: a review of the literature and worldwide practices","volume":"57","author":"Blouin","year":"2022","journal-title":"Bone Marrow Transplant"},{"issue":"19","key":"10.1016\/j.gim.2026.102596_bib77","doi-asserted-by":"crossref","DOI":"10.3390\/ijms231911724","article-title":"Pathogenic roles of heparan sulfate and its use as a biomarker in mucopolysaccharidoses","volume":"23","author":"Minami","year":"2022","journal-title":"Int J Mol Sci"},{"issue":"13","key":"10.1016\/j.gim.2026.102596_bib78","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1182\/blood-2014-11-608075","article-title":"Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study","volume":"125","author":"Aldenhoven","year":"2015","journal-title":"Blood"},{"issue":"1-2","key":"10.1016\/j.gim.2026.102596_bib79","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.ymgme.2018.04.011","article-title":"Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis","volume":"125","author":"Khan","year":"2018","journal-title":"Mol Genet Metab"},{"issue":"suppl 5","key":"10.1016\/j.gim.2026.102596_bib80","doi-asserted-by":"crossref","first-page":"v41","DOI":"10.1093\/rheumatology\/ker390","article-title":"Diagnosis of the mucopolysaccharidoses","volume":"50","author":"Lehman","year":"2011","journal-title":"Rheumatology"},{"issue":"2","key":"10.1016\/j.gim.2026.102596_bib81","first-page":"116","article-title":"Specific GAG ratios in the diagnosis of mucopolysaccharidoses","volume":"65","author":"Mathis","year":"2024","journal-title":"JIMD Rep"},{"issue":"2","key":"10.1016\/j.gim.2026.102596_bib82","doi-asserted-by":"crossref","first-page":"189","DOI":"10.3390\/biom11020189","article-title":"Mucopolysaccharidosis Type I: current treatments, limitations, and prospects for improvement","volume":"11","author":"Hampe","year":"2021","journal-title":"Biomolecules"},{"key":"10.1016\/j.gim.2026.102596_bib83","first-page":"49","article-title":"Prenatal diagnosis and genetic counseling of mucopolysaccharidosis type II (Hunter syndrome)","volume":"18","author":"Chen","year":"2007","journal-title":"Genet Couns"},{"issue":"1","key":"10.1016\/j.gim.2026.102596_bib84","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1186\/s13023-024-03463-9","article-title":"Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with mucopolysaccharidosis type II: a position statement","volume":"19","author":"Giugliani","year":"2024","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"10.1016\/j.gim.2026.102596_bib85","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1007\/s10545-011-9436-z","article-title":"Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America","volume":"35","author":"Giugliani","year":"2012","journal-title":"J Inherit Metab Dis"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360026009147?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360026009147?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T23:25:50Z","timestamp":1786663550000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360026009147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":84,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["S1098360026009147"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2026.102596","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2026.102596","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"102596"}}