Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade.
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| Title: | Nationwide newborn screening for mucopolysaccharidoses in Taiwan: Impact, early diagnosis, and clinical advances over the past decade. |
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| 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 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42104851 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| 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 |
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