P244: Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry
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| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425002481 |
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| _version_ | 1849713753207078912 |
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| author | Heather Morgan Nicole Muschol Julia Hennermann Martin Magner Christina Lampe Monica Lopez-Rodriguez Katarína Juríčková Daniela Garavaglia Chiara Donati Vito Fichera Nathalie Guffon |
| author_facet | Heather Morgan Nicole Muschol Julia Hennermann Martin Magner Christina Lampe Monica Lopez-Rodriguez Katarína Juríčková Daniela Garavaglia Chiara Donati Vito Fichera Nathalie Guffon |
| author_sort | Heather Morgan |
| collection | DOAJ |
| format | Article |
| id | doaj-art-52da157d23df4ffb9183711dac071bc3 |
| institution | DOAJ |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-52da157d23df4ffb9183711dac071bc32025-08-20T03:13:53ZengElsevierGenetics in Medicine Open2949-77442025-01-01310220910.1016/j.gimo.2025.102209P244: Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registryHeather Morgan0Nicole Muschol1Julia Hennermann2Martin Magner3Christina Lampe4Monica Lopez-Rodriguez5Katarína Juríčková6Daniela Garavaglia7Chiara Donati8Vito Fichera9Nathalie Guffon10Chiesi USA, IncInternational Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-EppendorfVilla Metabolica, University Medical Center MainzDepartment of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, General University HospitalCenter for Pediatric and Adolescent Medicine, Giessen University HospitalHospital Universitario Ramón Y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS)Department of Paediatrics, Faculty of Medicine, Comenius University in Bratislava, and National Institute of Children’s DiseaseChiesi Farmaceutici S.p.AChiesi Farmaceutici S.p.AChiesi Farmaceutici S.p.AReference Centre for Inherited Metabolic Diseases (CERLYMM), Hospices Civils of Lyon (HCL)http://www.sciencedirect.com/science/article/pii/S2949774425002481 |
| spellingShingle | Heather Morgan Nicole Muschol Julia Hennermann Martin Magner Christina Lampe Monica Lopez-Rodriguez Katarína Juríčková Daniela Garavaglia Chiara Donati Vito Fichera Nathalie Guffon P244: Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry Genetics in Medicine Open |
| title | P244: Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry |
| title_full | P244: Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry |
| title_fullStr | P244: Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry |
| title_full_unstemmed | P244: Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry |
| title_short | P244: Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry |
| title_sort | p244 clinical profiles of 134 patients with alpha mannosidosis from the velmanase alfa clinical program and sparkle registry |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425002481 |
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