P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency
| Main Authors: | , , , , , , |
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| 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/S2949774424000396 |
| _version_ | 1797267603025035264 |
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| author | Ameya Walimbe Emily Waskow Laura Mackay Charul Gijavanekar Marcus Miller Sarah Elsea Fernando Scaglia |
| author_facet | Ameya Walimbe Emily Waskow Laura Mackay Charul Gijavanekar Marcus Miller Sarah Elsea Fernando Scaglia |
| author_sort | Ameya Walimbe |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:19:12Z |
| format | Article |
| id | doaj.art-606f43b9c31a4fb29ebf91a77a21eeb4 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:19:12Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-606f43b9c31a4fb29ebf91a77a21eeb42024-03-09T09:30:01ZengElsevierGenetics in Medicine Open2949-77442024-01-012100893P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiencyAmeya Walimbe0Emily Waskow1Laura Mackay2Charul Gijavanekar3Marcus Miller4Sarah Elsea5Fernando Scaglia6Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, Texas Children’s Hospital, Houston, TXTexas Children’s Hospital, Houston, TX, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TXDepartment of Pediatrics, UT Southwestern, Dallas, TXDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TXIndiana University School of Medicine, Indianapolis, INDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TXTexas Children’s Hospital, Houston, TX, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong SAR, Chinahttp://www.sciencedirect.com/science/article/pii/S2949774424000396 |
| spellingShingle | Ameya Walimbe Emily Waskow Laura Mackay Charul Gijavanekar Marcus Miller Sarah Elsea Fernando Scaglia P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency Genetics in Medicine Open |
| title | P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency |
| title_full | P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency |
| title_fullStr | P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency |
| title_full_unstemmed | P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency |
| title_short | P016: Expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium-dependent multivitamin transporter deficiency |
| title_sort | p016 expanded clinical phenotype and the role of untargeted metabolomics analysis in confirming the diagnosis of sodium dependent multivitamin transporter deficiency |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424000396 |
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