Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade.

Saved in:
Bibliographic Details
Title: Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade.
Authors: Chuang CK; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan., Tu YR; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan., Lee CL; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; International Rare Disease Center and Biochemical Genetics Laboratory, MacKay Memorial Hospital, Taipei, Taiwan., Lo YT; International Rare Disease Center and Biochemical Genetics Laboratory, MacKay Memorial Hospital, Taipei, Taiwan., Chang YH; International Rare Disease Center and Biochemical Genetics Laboratory, MacKay Memorial Hospital, Taipei, Taiwan., Wu JY; International Rare Disease Center and Biochemical Genetics Laboratory, MacKay Memorial Hospital, Taipei, Taiwan., Liu MY; Neonatal Screening Center, Chinese Foundation of Health, Taipei, Taiwan., Liu HY; Neonatal Screening Center, Chinese Foundation of Health, Taipei, Taiwan., Chen HJ; Neonatal Screening Center, Chinese Foundation of Health, Taipei, Taiwan., Kao SM; Neonatal Screening Center, Chinese Foundation of Health, Taipei, Taiwan., Wang LY; Taipei Institute of Pathology, Neonatal Screening Center, Taipei, Taiwan., Ho HJ; Taipei Institute of Pathology, Neonatal Screening Center, Taipei, Taiwan., Lin HY; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; International Rare Disease Center and Biochemical Genetics Laboratory, MacKay Memorial Hospital, Taipei, Taiwan; Department of Early Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Department of Medicine, MacKay Medical University, New Taipei City, Taiwan; Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan. Electronic address: lxc46199@ms37.hinet.net., Lin SP; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; International Rare Disease Center and Biochemical Genetics Laboratory, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical University, New Taipei City, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address: 4535lin@gmail.com.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jul; Vol. 28 (7), pp. 102596. Date of Electronic Publication: 2026 May 07.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42104851
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Chuang+CK%22">Chuang CK</searchLink>; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Tu+YR%22">Tu YR</searchLink>; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lee+CL%22">Lee CL</searchLink>; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; International Rare Disease Center and Biochemical Genetics Laboratory, MacKay Memorial Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lo+YT%22">Lo YT</searchLink>; International Rare Disease Center and Biochemical Genetics Laboratory, MacKay Memorial Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chang+YH%22">Chang YH</searchLink>; International Rare Disease Center and Biochemical Genetics Laboratory, MacKay Memorial Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Wu+JY%22">Wu JY</searchLink>; International Rare Disease Center and Biochemical Genetics Laboratory, MacKay Memorial Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Liu+MY%22">Liu MY</searchLink>; Neonatal Screening Center, Chinese Foundation of Health, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Liu+HY%22">Liu HY</searchLink>; Neonatal Screening Center, Chinese Foundation of Health, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+HJ%22">Chen HJ</searchLink>; Neonatal Screening Center, Chinese Foundation of Health, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Kao+SM%22">Kao SM</searchLink>; Neonatal Screening Center, Chinese Foundation of Health, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Wang+LY%22">Wang LY</searchLink>; Taipei Institute of Pathology, Neonatal Screening Center, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Ho+HJ%22">Ho HJ</searchLink>; Taipei Institute of Pathology, Neonatal Screening Center, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lin+HY%22">Lin HY</searchLink>; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; International Rare Disease Center and Biochemical Genetics Laboratory, MacKay Memorial Hospital, Taipei, Taiwan; Department of Early Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Department of Medicine, MacKay Medical University, New Taipei City, Taiwan; Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan. Electronic address: lxc46199@ms37.hinet.net.<br /><searchLink fieldCode="AU" term="%22Lin+SP%22">Lin SP</searchLink>; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; International Rare Disease Center and Biochemical Genetics Laboratory, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical University, New Taipei City, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address: 4535lin@gmail.com.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2026 Jul; Vol. 28 (7), pp. 102596. <i>Date of Electronic Publication: </i>2026 May 07.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Journal Article
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9815831 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-0366 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210983600%22">10983600 </searchLink><i>NLM ISO Abbreviation: </i>Genet Med <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42104851
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.gim.2026.102596
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 102596
    Titles:
      – TitleFull: Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Chuang CK
      – PersonEntity:
          Name:
            NameFull: Tu YR
      – PersonEntity:
          Name:
            NameFull: Lee CL
      – PersonEntity:
          Name:
            NameFull: Lo YT
      – PersonEntity:
          Name:
            NameFull: Chang YH
      – PersonEntity:
          Name:
            NameFull: Wu JY
      – PersonEntity:
          Name:
            NameFull: Liu MY
      – PersonEntity:
          Name:
            NameFull: Liu HY
      – PersonEntity:
          Name:
            NameFull: Chen HJ
      – PersonEntity:
          Name:
            NameFull: Kao SM
      – PersonEntity:
          Name:
            NameFull: Wang LY
      – PersonEntity:
          Name:
            NameFull: Ho HJ
      – PersonEntity:
          Name:
            NameFull: Lin HY
      – PersonEntity:
          Name:
            NameFull: Lin SP
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 07
              Text: 2026 Jul
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 28
            – Type: issue
              Value: 7
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
ResultId 1