Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening Experience.
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| Title: | Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening Experience. |
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| Authors: | Paltzer A, Paltzer AM; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA., Quadri AM; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Rasmussen C; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA., Schiffmann R; Department of Internal Medicine, Texas Christian University, Fort Worth, Texas, USA., Charrow J; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Prada CE; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. |
| Source: | Nephron [Nephron] 2025; Vol. 149 (10), pp. 597-603. Date of Electronic Publication: 2025 Mar 28. |
| Publication Type: | Journal Article; Review |
| Journal Info: | Publisher: Karger Country of Publication: Switzerland NLM ID: 0331777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2235-3186 (Electronic) Linking ISSN: 16608151 NLM ISO Abbreviation: Nephron Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2235-3186 |
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| DOI: | 10.1159/000543920 |
