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Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.

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Title: Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.
Authors: VanSickle EA; School of Nursing, Healthcare Genetics and Genomics Program, Clemson University, Clemson, South Carolina, USA.; Division of Medical Genetics, Corewell Health/Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA.; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA., Sarasua SM; School of Nursing, Healthcare Genetics and Genomics Program, Clemson University, Clemson, South Carolina, USA., Lowe T; School of Nursing, Healthcare Genetics and Genomics Program, Clemson University, Clemson, South Carolina, USA., Farrell CL; School of Nursing, Healthcare Genetics and Genomics Program, Clemson University, Clemson, South Carolina, USA., Boccuto L; School of Nursing, Healthcare Genetics and Genomics Program, Clemson University, Clemson, South Carolina, USA., Schwartz C; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA., Pegg AE; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Department of Cellular and Molecular Physiology, Milton S. Hershey Medical Center, Pennsylvania State University College of Medicine, Pennsylvania, USA., Peron A; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Meyer Children's Hospital, IRCCS, Florence, Italy., Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile., Ganapathi M; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, New York, USA., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; DHPS Foundation, Reston, Virginia, USA., Ziegler A; Department of Medical Genetics, University Hospital of Toulouse, Toulouse, France., Hofstede F; University Medical Center Utrecht, Utrecht, the Netherlands., Prouteau C; Department of Genetics, University Hospital of Angers, Angers, France., Steindl K; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Olson C; DHPS Foundation, Reston, Virginia, USA., Devinsky O; DHPS Foundation, Reston, Virginia, USA.; Department of Neurology, NYU Grossman School of Medicine, New York, New York, USA., Mastracci TL; Department of Biology, Indiana University-Indianapolis, Indianapolis, Indiana, USA., Casero RA Jr; The Johns Hopkins University, Baltimore, Maryland, USA., Stewart TM; The Johns Hopkins University, Baltimore, Maryland, USA., Gilmour S; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Lankenau Institute for Medical Research, Wynnewood, Pennsylvania, USA., Koerner T; The Snyder-Robinson Foundation, McLean, Virginia, USA., Kutler MJ; The Snyder-Robinson Foundation, McLean, Virginia, USA., Rajasekaran S; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA., Michael J; Division of Medical Genetics, Corewell Health/Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA.; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA., Bachmann AS; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA., Bupp CP; Division of Medical Genetics, Corewell Health/Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA.; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 May; Vol. 200 (5), pp. 993-1003. Date of Electronic Publication: 2025 Dec 18.
Publication Type: Journal Article; Review; Research Support, N.I.H., Extramural
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
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  Data: Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.
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  Data: <searchLink fieldCode="AU" term="%22VanSickle+EA%22">VanSickle EA</searchLink>; School of Nursing, Healthcare Genetics and Genomics Program, Clemson University, Clemson, South Carolina, USA.; Division of Medical Genetics, Corewell Health/Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA.; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.<br /><searchLink fieldCode="AU" term="%22Sarasua+SM%22">Sarasua SM</searchLink>; School of Nursing, Healthcare Genetics and Genomics Program, Clemson University, Clemson, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Lowe+T%22">Lowe T</searchLink>; School of Nursing, Healthcare Genetics and Genomics Program, Clemson University, Clemson, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Farrell+CL%22">Farrell CL</searchLink>; School of Nursing, Healthcare Genetics and Genomics Program, Clemson University, Clemson, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Boccuto+L%22">Boccuto L</searchLink>; School of Nursing, Healthcare Genetics and Genomics Program, Clemson University, Clemson, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Schwartz+C%22">Schwartz C</searchLink>; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA.<br /><searchLink fieldCode="AU" term="%22Pegg+AE%22">Pegg AE</searchLink>; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Department of Cellular and Molecular Physiology, Milton S. Hershey Medical Center, Pennsylvania State University College of Medicine, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Peron+A%22">Peron A</searchLink>; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Meyer Children's Hospital, IRCCS, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Faundes+V%22">Faundes V</searchLink>; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Ganapathi+M%22">Ganapathi M</searchLink>; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Chung+WK%22">Chung WK</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; DHPS Foundation, Reston, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Ziegler+A%22">Ziegler A</searchLink>; Department of Medical Genetics, University Hospital of Toulouse, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Hofstede+F%22">Hofstede F</searchLink>; University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Prouteau+C%22">Prouteau C</searchLink>; Department of Genetics, University Hospital of Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Steindl+K%22">Steindl K</searchLink>; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Olson+C%22">Olson C</searchLink>; DHPS Foundation, Reston, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Devinsky+O%22">Devinsky O</searchLink>; DHPS Foundation, Reston, Virginia, USA.; Department of Neurology, NYU Grossman School of Medicine, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Mastracci+TL%22">Mastracci TL</searchLink>; Department of Biology, Indiana University-Indianapolis, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Casero+RA+Jr%22">Casero RA Jr</searchLink>; The Johns Hopkins University, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Stewart+TM%22">Stewart TM</searchLink>; The Johns Hopkins University, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Gilmour+S%22">Gilmour S</searchLink>; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Lankenau Institute for Medical Research, Wynnewood, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Koerner+T%22">Koerner T</searchLink>; The Snyder-Robinson Foundation, McLean, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Kutler+MJ%22">Kutler MJ</searchLink>; The Snyder-Robinson Foundation, McLean, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Rajasekaran+S%22">Rajasekaran S</searchLink>; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA.<br /><searchLink fieldCode="AU" term="%22Michael+J%22">Michael J</searchLink>; Division of Medical Genetics, Corewell Health/Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA.; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.<br /><searchLink fieldCode="AU" term="%22Bachmann+AS%22">Bachmann AS</searchLink>; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA.<br /><searchLink fieldCode="AU" term="%22Bupp+CP%22">Bupp CP</searchLink>; Division of Medical Genetics, Corewell Health/Helen DeVos Children's Hospital, Grand Rapids, Michigan, USA.; International Center for Polyamine Disorders, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2026 May; Vol. 200 (5), pp. 993-1003. <i>Date of Electronic Publication: </i>2025 Dec 18.
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