Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders
Recent identification of four additional polyaminopathies, including Bachmann–Bupp syndrome, have benefited from previous research on Snyder–Robinson syndrome in order to advance from research to treatment more quickly. As a result of the discovery of these conditions, the potential for treatment wi...
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MDPI AG
2023-04-01
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| Series: | Medical Sciences |
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| Online Access: | https://www.mdpi.com/2076-3271/11/2/29 |
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| author | Julianne Michael Elizabeth VanSickle Marlie Vipond Abby Dalman Jeremy Prokop Charles E. Schwartz Surender Rajasekaran André S. Bachmann Magalie Barth Clément Prouteau Yotam Almagor Lina Berkun Gheona Alterescu Caleb P. Bupp |
| author_facet | Julianne Michael Elizabeth VanSickle Marlie Vipond Abby Dalman Jeremy Prokop Charles E. Schwartz Surender Rajasekaran André S. Bachmann Magalie Barth Clément Prouteau Yotam Almagor Lina Berkun Gheona Alterescu Caleb P. Bupp |
| author_sort | Julianne Michael |
| collection | DOAJ |
| description | Recent identification of four additional polyaminopathies, including Bachmann–Bupp syndrome, have benefited from previous research on Snyder–Robinson 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–Bupp 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. |
| first_indexed | 2024-03-11T02:10:24Z |
| format | Article |
| id | doaj.art-6c50033ad1b24e8d863ee9b47432b374 |
| institution | Directory Open Access Journal |
| issn | 2076-3271 |
| language | English |
| last_indexed | 2024-03-11T02:10:24Z |
| publishDate | 2023-04-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Medical Sciences |
| spelling | doaj.art-6c50033ad1b24e8d863ee9b47432b3742023-11-18T11:32:47ZengMDPI AGMedical Sciences2076-32712023-04-011122910.3390/medsci11020029Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine DisordersJulianne Michael0Elizabeth VanSickle1Marlie Vipond2Abby Dalman3Jeremy Prokop4Charles E. Schwartz5Surender Rajasekaran6André S. Bachmann7Magalie Barth8Clément Prouteau9Yotam Almagor10Lina Berkun11Gheona Alterescu12Caleb P. Bupp13Corewell Health and Helen DeVos Children’s Hospital, Grand Rapids, MI 49503, USACorewell Health and Helen DeVos Children’s Hospital, Grand Rapids, MI 49503, USACorewell Health and Helen DeVos Children’s Hospital, Grand Rapids, MI 49503, USACorewell Health and Helen DeVos Children’s Hospital, Grand Rapids, MI 49503, USACorewell Health and Helen DeVos Children’s Hospital, Grand Rapids, MI 49503, USAInternational Center for Polyamine Disorders, Grand Rapids, MI 49503, USACorewell Health and Helen DeVos Children’s Hospital, Grand Rapids, MI 49503, USAInternational Center for Polyamine Disorders, Grand Rapids, MI 49503, USADepartment of Biochemistry and Genetics, Angers University Hospital Center, 49100 Angers, FranceDepartment of Biochemistry and Genetics, Angers University Hospital Center, 49100 Angers, FranceMeuhedet Healthcare, Jerusalem 9957520, IsraelShaare Zedek Medical Center, Medical Genetics Institute, Jerusalem 9103102, IsraelShaare Zedek Medical Center, Medical Genetics Institute, Jerusalem 9103102, IsraelCorewell Health and Helen DeVos Children’s Hospital, Grand Rapids, MI 49503, USARecent identification of four additional polyaminopathies, including Bachmann–Bupp syndrome, have benefited from previous research on Snyder–Robinson 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–Bupp 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.https://www.mdpi.com/2076-3271/11/2/29Bachmann–Bupp Syndrome (BABS)Snyder–Robinson Syndrome (SRS)International Center for Polyamine Disorders (ICPD)α-difluoromethylornithine (DFMO)polyamine |
| spellingShingle | Julianne Michael Elizabeth VanSickle Marlie Vipond Abby Dalman Jeremy Prokop Charles E. Schwartz Surender Rajasekaran André S. Bachmann Magalie Barth Clément Prouteau Yotam Almagor Lina Berkun Gheona Alterescu Caleb P. Bupp Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders Medical Sciences Bachmann–Bupp Syndrome (BABS) Snyder–Robinson Syndrome (SRS) International Center for Polyamine Disorders (ICPD) α-difluoromethylornithine (DFMO) polyamine |
| title | Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders |
| title_full | Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders |
| title_fullStr | Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders |
| title_full_unstemmed | Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders |
| title_short | Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders |
| title_sort | two new cases of bachmann bupp syndrome identified through the international center for polyamine disorders |
| topic | Bachmann–Bupp Syndrome (BABS) Snyder–Robinson Syndrome (SRS) International Center for Polyamine Disorders (ICPD) α-difluoromethylornithine (DFMO) polyamine |
| url | https://www.mdpi.com/2076-3271/11/2/29 |
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