P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported cases
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425009732 |
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| _version_ | 1849711751472349184 |
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| author | Elizabeth Null Erika Beckman Christina Lam |
| author_facet | Elizabeth Null Erika Beckman Christina Lam |
| author_sort | Elizabeth Null |
| collection | DOAJ |
| format | Article |
| id | doaj-art-07ac2f88d2e74f27a2f50d337fdd593e |
| institution | DOAJ |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-07ac2f88d2e74f27a2f50d337fdd593e2025-08-20T03:14:32ZengElsevierGenetics in Medicine Open2949-77442025-01-01310293410.1016/j.gimo.2025.102934P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported casesElizabeth Null0Erika Beckman1Christina Lam2University of Nebraska Medical Center, Children’s Nebraska, Omaha, NEDivision of Genetic Medicine, Seattle Children's Hospital, Seattle, WADivision of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicinehttp://www.sciencedirect.com/science/article/pii/S2949774425009732 |
| spellingShingle | Elizabeth Null Erika Beckman Christina Lam P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported cases Genetics in Medicine Open |
| title | P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported cases |
| title_full | P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported cases |
| title_fullStr | P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported cases |
| title_full_unstemmed | P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported cases |
| title_short | P090: SC4MOL deficiency: 11th reported patient with updates in treatment outcomes and review of reported cases |
| title_sort | p090 sc4mol deficiency 11th reported patient with updates in treatment outcomes and review of reported cases |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425009732 |
| work_keys_str_mv | AT elizabethnull p090sc4moldeficiency11threportedpatientwithupdatesintreatmentoutcomesandreviewofreportedcases AT erikabeckman p090sc4moldeficiency11threportedpatientwithupdatesintreatmentoutcomesandreviewofreportedcases AT christinalam p090sc4moldeficiency11threportedpatientwithupdatesintreatmentoutcomesandreviewofreportedcases |