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Delayed Diagnosis of Cobalamin E Defect in an Adolescent Patient
Cobalamin and its metabolites play a critical role in deoxyribonucleic acid synthesis. Disorders of cobalamin metabolism are rare and related with neurological and hematological problems. We report an adolescent patient with cobalamin E (CblE) defect presenting with megaloblastic anemia, mental reta...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519755/ https://www.ncbi.nlm.nih.gov/pubmed/33042249 http://dx.doi.org/10.4103/jpn.JPN_132_19 |