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Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.

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Title: Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.
Authors: Kılıç M; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, University of Health Sciences, Ankara, Turkey., Sayar E; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey., İcil S; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey., Doğan S; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey., Gökçe-Altaş G; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey., Koşukcu C; Department of Bioinformatics, Hacettepe University Graduate School of Health Sciences, Ankara, Turkey., Bakır A; Department of Genetics, Ankara Etlik City Hospital, Ankara, Turkey., Sezer A; Department of Genetics, Ankara Etlik City Hospital, Ankara, Turkey.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jul; Vol. 197 (7), pp. e64037. Date of Electronic Publication: 2025 Mar 06.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.
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  Data: <searchLink fieldCode="AU" term="%22Kılıç+M%22">Kılıç M</searchLink>; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, University of Health Sciences, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Sayar+E%22">Sayar E</searchLink>; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22İcil+S%22">İcil S</searchLink>; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Doğan+S%22">Doğan S</searchLink>; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Gökçe-Altaş+G%22">Gökçe-Altaş G</searchLink>; Department of Pediatrics, Metabolism Unit, Ankara Etlik City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Koşukcu+C%22">Koşukcu C</searchLink>; Department of Bioinformatics, Hacettepe University Graduate School of Health Sciences, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Bakır+A%22">Bakır A</searchLink>; Department of Genetics, Ankara Etlik City Hospital, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Sezer+A%22">Sezer A</searchLink>; Department of Genetics, Ankara Etlik City Hospital, Ankara, Turkey.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2025 Jul; Vol. 197 (7), pp. e64037. <i>Date of Electronic Publication: </i>2025 Mar 06.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE
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        Value: 10.1002/ajmg.a.64037
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      – Code: eng
        Text: English
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      – TitleFull: Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel Mutation.
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            NameFull: Kılıç M
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            – D: 01
              M: 07
              Text: 2025 Jul
              Type: published
              Y: 2025
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              Value: 197
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            – TitleFull: American journal of medical genetics. Part A
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