{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T22:38:22Z","timestamp":1784673502500,"version":"3.55.0"},"reference-count":23,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T00:00:00Z","timestamp":1680566400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Institutes of Health","award":["R01 HD110500"],"award-info":[{"award-number":["R01 HD110500"]}]},{"name":"Helen DeVos Children\u2019s Hospital","award":["R01 HD110500"],"award-info":[{"award-number":["R01 HD110500"]}]},{"name":"MSU-Spectrum Health Alliance Corporation","award":["R01 HD110500"],"award-info":[{"award-number":["R01 HD110500"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medical Sciences"],"abstract":"<jats:p>Recent identification of four additional polyaminopathies, including Bachmann\u2013Bupp syndrome, have benefited from previous research on Snyder\u2013Robinson syndrome in order to advance from research to treatment more quickly. As a result of the discovery of these conditions, the potential for treatment within this pathway, and for other possible unidentified polyaminopathies, the International Center for Polyamine Disorders (ICPD) was created to help promote understanding of these conditions, research opportunities, and appropriate care for families. This case study provides insights from two new patients diagnosed with Bachmann\u2013Bupp syndrome, further expanding our understanding of this ultra-rare condition, as well as a general discussion about other known polyaminopathies. This work also presents considerations for collaborative research efforts across these conditions, along with others that are likely to be identified in time, and outlines the role that the ICPD hopes to fill as more patients with these polyaminopathies continue to be identified and diagnosed.<\/jats:p>","DOI":"10.3390\/medsci11020029","type":"journal-article","created":{"date-parts":[[2023,4,4]],"date-time":"2023-04-04T04:52:14Z","timestamp":1680583934000},"page":"29","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Two New Cases of Bachmann\u2013Bupp Syndrome Identified through the International Center for Polyamine Disorders"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1244-1818","authenticated-orcid":false,"given":"Julianne","family":"Michael","sequence":"first","affiliation":[{"name":"Corewell Health and Helen DeVos Children\u2019s Hospital, Grand Rapids, MI 49503, USA"},{"name":"International Center for Polyamine Disorders, Grand Rapids, MI 49503, USA"},{"name":"Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI 49503, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"VanSickle","sequence":"additional","affiliation":[{"name":"Corewell Health and Helen DeVos Children\u2019s Hospital, Grand Rapids, MI 49503, USA"},{"name":"International Center for Polyamine Disorders, Grand Rapids, MI 49503, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlie","family":"Vipond","sequence":"additional","affiliation":[{"name":"Corewell Health and Helen DeVos Children\u2019s Hospital, Grand Rapids, MI 49503, USA"},{"name":"International Center for Polyamine Disorders, Grand Rapids, MI 49503, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abby","family":"Dalman","sequence":"additional","affiliation":[{"name":"Corewell Health and Helen DeVos Children\u2019s Hospital, Grand Rapids, MI 49503, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Prokop","sequence":"additional","affiliation":[{"name":"Corewell Health and Helen DeVos Children\u2019s Hospital, Grand Rapids, MI 49503, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles E.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"International Center for Polyamine Disorders, Grand Rapids, MI 49503, USA"},{"name":"Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI 49503, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Surender","family":"Rajasekaran","sequence":"additional","affiliation":[{"name":"Corewell Health and Helen DeVos Children\u2019s Hospital, Grand Rapids, MI 49503, USA"},{"name":"International Center for Polyamine Disorders, Grand Rapids, MI 49503, USA"},{"name":"Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI 49503, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6510-8560","authenticated-orcid":false,"given":"Andr\u00e9 S.","family":"Bachmann","sequence":"additional","affiliation":[{"name":"International Center for Polyamine Disorders, Grand Rapids, MI 49503, USA"},{"name":"Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI 49503, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magalie","family":"Barth","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Genetics, Angers University Hospital Center, 49100 Angers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2986-5599","authenticated-orcid":false,"given":"Cl\u00e9ment","family":"Prouteau","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Genetics, Angers University Hospital Center, 49100 Angers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yotam","family":"Almagor","sequence":"additional","affiliation":[{"name":"Meuhedet Healthcare, Jerusalem 9957520, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Berkun","sequence":"additional","affiliation":[{"name":"Shaare Zedek Medical Center, Medical Genetics Institute, Jerusalem 9103102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gheona","family":"Alterescu","sequence":"additional","affiliation":[{"name":"Shaare Zedek Medical Center, Medical Genetics Institute, Jerusalem 9103102, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caleb P.","family":"Bupp","sequence":"additional","affiliation":[{"name":"Corewell Health and Helen DeVos Children\u2019s Hospital, Grand Rapids, MI 49503, USA"},{"name":"International Center for Polyamine Disorders, Grand Rapids, MI 49503, USA"},{"name":"Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI 49503, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1177\/000992286900801114","article-title":"Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. 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