Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration.
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| Title: | Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration. |
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| Authors: | Lynch M; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia.; Department of Neurosciences Queensland Children's Hospital Brisbane Australia.; School of Medicine The University of Queensland Brisbane Australia., Manoy S; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia.; School of Medicine The University of Queensland Brisbane Australia., Murray C; Department of Neurosciences Queensland Children's Hospital Brisbane Australia., Wallace G; Department of Neurosciences Queensland Children's Hospital Brisbane Australia., Pereira N; Department of Radiology Queensland Children's Hospital Brisbane Australia., Price R; Newborn Screening Queensland The Royal Brisbane and Women's Hospital Brisbane Australia., Inwood A; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia.; School of Nursing and Social Work The University of Queensland Brisbane Australia., McGill J; School of Medicine The University of Queensland Brisbane Australia.; Department of Chemical Pathology The Royal Brisbane and Women's Hospital Brisbane Australia., Coman D; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia.; School of Medicine The University of Queensland Brisbane Australia.; School of Medicine Griffith University Gold Coast Australia. |
| Source: | JIMD reports [JIMD Rep] 2026 Feb 26; Vol. 67 (2), pp. e70066. Date of Electronic Publication: 2026 Feb 26 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2192-8304 |
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| DOI: | 10.1002/jmd2.70066 |
