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Neonatal Congenital Myasthenic Syndrome Linked to CHAT Gene Variants: A Case Report and Treatment Insights.

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Title: Neonatal Congenital Myasthenic Syndrome Linked to CHAT Gene Variants: A Case Report and Treatment Insights.
Authors: Khalil MR; Department of Gynecology and Obstetrics, Hospital of Lillebaelt, Kolding, Denmark., Laulund LW; HC Andersen Children's and Youth Hospital, Odense University Hospital, Odense, Denmark., Aavild Ploug AJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Elle IC; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Fenger-Groen J; Department of Children and Young People, Hospital of Lillebaelt, Kolding, Denmark.
Source: The American journal of case reports [Am J Case Rep] 2025 Apr 23; Vol. 26, pp. e946839. Date of Electronic Publication: 2025 Apr 23.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: International Scientific Information, Inc Country of Publication: United States NLM ID: 101489566 Publication Model: Electronic Cited Medium: Internet ISSN: 1941-5923 (Electronic) Linking ISSN: 19415923 NLM ISO Abbreviation: Am J Case Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Khalil+MR%22">Khalil MR</searchLink>; Department of Gynecology and Obstetrics, Hospital of Lillebaelt, Kolding, Denmark.<br /><searchLink fieldCode="AU" term="%22Laulund+LW%22">Laulund LW</searchLink>; HC Andersen Children's and Youth Hospital, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Aavild+Ploug+AJ%22">Aavild Ploug AJ</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Elle+IC%22">Elle IC</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Fenger-Groen+J%22">Fenger-Groen J</searchLink>; Department of Children and Young People, Hospital of Lillebaelt, Kolding, Denmark.
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  Data: <searchLink fieldCode="JN" term="%22101489566%22">The American journal of case reports</searchLink> [Am J Case Rep] 2025 Apr 23; Vol. 26, pp. e946839. <i>Date of Electronic Publication: </i>2025 Apr 23.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22International+Scientific+Information%2C+Inc%22">International Scientific Information, Inc </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101489566 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1941-5923 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2219415923%22">19415923 </searchLink><i>NLM ISO Abbreviation: </i>Am J Case Rep <i>Subsets: </i>MEDLINE
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        Value: 10.12659/AJCR.946839
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        Text: English
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              Text: 2025 Apr 23
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