P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424002899 |
| _version_ | 1827322063667331072 |
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| author | Kim Keppler-Noreuil Sharon Luu Katryn Furuya Seth Berger Eyby Leon |
| author_facet | Kim Keppler-Noreuil Sharon Luu Katryn Furuya Seth Berger Eyby Leon |
| author_sort | Kim Keppler-Noreuil |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:18:42Z |
| format | Article |
| id | doaj.art-fbe8bf92d1d647c1bcfbf24e065fab3f |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:18:42Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-fbe8bf92d1d647c1bcfbf24e065fab3f2024-03-09T09:31:22ZengElsevierGenetics in Medicine Open2949-77442024-01-012101143P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorderKim Keppler-Noreuil0Sharon Luu1Katryn Furuya2Seth Berger3Eyby Leon4University of Wisconsin Hospital and Clinics/Waisman CenterUniversity of WisconsinUniversity of Wisconsin School of Medicine and Public HealthDivision of Genetics, Children's National Medical CenterDivision of Genetics, Children's National Medical Centerhttp://www.sciencedirect.com/science/article/pii/S2949774424002899 |
| spellingShingle | Kim Keppler-Noreuil Sharon Luu Katryn Furuya Seth Berger Eyby Leon P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder Genetics in Medicine Open |
| title | P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder |
| title_full | P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder |
| title_fullStr | P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder |
| title_full_unstemmed | P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder |
| title_short | P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder |
| title_sort | p247 expanded phenotype and pathogenesis of the novel tfe3 related lysosomal disorder |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424002899 |
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