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Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
BACKGROUND: GAI and MPSIIIB are two rare genetic disorders caused by pathogenic variants in two different genes. Here, we report a coexistence of these two different rare disorders in an individual. METHODS: A four-year-old Iranian boy born to first-cousin parents suspected to have MPSIIIB and/or GA...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pasteur Institute of Iran
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275620/ https://www.ncbi.nlm.nih.gov/pubmed/31952437 http://dx.doi.org/10.29252/ibj.24.3.201 |