Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population.
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| Title: | Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population. |
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| Authors: | Cheah FC; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia., Syed Omar SA; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia., Lee J; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia., Ang ZJ; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia., Gopal AR; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia., Wan Md Zin WN; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia., Ng BK; Department of Obstetrics and Gynaecology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia., Chiang SC; Department of Medical Genetics, National Taiwan University Hospital, Taipei City 10041, Taiwan., Chien YH; Department of Medical Genetics, National Taiwan University Hospital, Taipei City 10041, Taiwan. |
| Source: | International journal of neonatal screening [Int J Neonatal Screen] 2025 Sep 03; Vol. 11 (3). Date of Electronic Publication: 2025 Sep 03. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40981304 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Cheah+FC%22">Cheah FC</searchLink>; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.<br /><searchLink fieldCode="AU" term="%22Syed+Omar+SA%22">Syed Omar SA</searchLink>; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.<br /><searchLink fieldCode="AU" term="%22Lee+J%22">Lee J</searchLink>; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.<br /><searchLink fieldCode="AU" term="%22Ang+ZJ%22">Ang ZJ</searchLink>; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.<br /><searchLink fieldCode="AU" term="%22Gopal+AR%22">Gopal AR</searchLink>; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.<br /><searchLink fieldCode="AU" term="%22Wan+Md+Zin+WN%22">Wan Md Zin WN</searchLink>; Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.<br /><searchLink fieldCode="AU" term="%22Ng+BK%22">Ng BK</searchLink>; Department of Obstetrics and Gynaecology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur 56000, Malaysia.<br /><searchLink fieldCode="AU" term="%22Chiang+SC%22">Chiang SC</searchLink>; Department of Medical Genetics, National Taiwan University Hospital, Taipei City 10041, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chien+YH%22">Chien YH</searchLink>; Department of Medical Genetics, National Taiwan University Hospital, Taipei City 10041, Taiwan. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101665400%22">International journal of neonatal screening</searchLink> [Int J Neonatal Screen] 2025 Sep 03; Vol. 11 (3). <i>Date of Electronic Publication: </i>2025 Sep 03. – 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="%22MDPI+AG%22">MDPI AG </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101665400 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2409-515X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%222409515X%22">2409515X </searchLink><i>NLM ISO Abbreviation: </i>Int J Neonatal Screen <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40981304 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/ijns11030074 Languages: – Code: eng Text: English Titles: – TitleFull: Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Cheah FC – PersonEntity: Name: NameFull: Syed Omar SA – PersonEntity: Name: NameFull: Lee J – PersonEntity: Name: NameFull: Ang ZJ – PersonEntity: Name: NameFull: Gopal AR – PersonEntity: Name: NameFull: Wan Md Zin WN – PersonEntity: Name: NameFull: Ng BK – PersonEntity: Name: NameFull: Chiang SC – PersonEntity: Name: NameFull: Chien YH IsPartOfRelationships: – BibEntity: Dates: – D: 03 M: 09 Text: 2025 Sep 03 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 2409-515X Numbering: – Type: volume Value: 11 – Type: issue Value: 3 Titles: – TitleFull: International journal of neonatal screening Type: main |
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