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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.
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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  Data: Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration.
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  Data: <searchLink fieldCode="AU" term="%22Lynch+M%22">Lynch M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Manoy+S%22">Manoy S</searchLink>; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia.; School of Medicine The University of Queensland Brisbane Australia.<br /><searchLink fieldCode="AU" term="%22Murray+C%22">Murray C</searchLink>; Department of Neurosciences Queensland Children's Hospital Brisbane Australia.<br /><searchLink fieldCode="AU" term="%22Wallace+G%22">Wallace G</searchLink>; Department of Neurosciences Queensland Children's Hospital Brisbane Australia.<br /><searchLink fieldCode="AU" term="%22Pereira+N%22">Pereira N</searchLink>; Department of Radiology Queensland Children's Hospital Brisbane Australia.<br /><searchLink fieldCode="AU" term="%22Price+R%22">Price R</searchLink>; Newborn Screening Queensland The Royal Brisbane and Women's Hospital Brisbane Australia.<br /><searchLink fieldCode="AU" term="%22Inwood+A%22">Inwood A</searchLink>; Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital Brisbane Australia.; School of Nursing and Social Work The University of Queensland Brisbane Australia.<br /><searchLink fieldCode="AU" term="%22McGill+J%22">McGill J</searchLink>; School of Medicine The University of Queensland Brisbane Australia.; Department of Chemical Pathology The Royal Brisbane and Women's Hospital Brisbane Australia.<br /><searchLink fieldCode="AU" term="%22Coman+D%22">Coman D</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101568557%22">JIMD reports</searchLink> [JIMD Rep] 2026 Feb 26; Vol. 67 (2), pp. e70066. <i>Date of Electronic Publication: </i>2026 Feb 26 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101568557 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2192-8304 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221928304%22">21928304 </searchLink><i>NLM ISO Abbreviation: </i>JIMD Rep <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1002/jmd2.70066
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      – Code: eng
        Text: English
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      – TitleFull: Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration.
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              Text: 2026 Feb 26
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