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 |
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