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...

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Detalles Bibliográficos
Autores principales: Alaei, Mohammad Reza, Kheirkhahan, Meghdad, Talebi, Saeed, Davoudi-Dehaghani, Elham, Keramatipour, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pasteur Institute of Iran 2020
Materias:
Case Report
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

Internet

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

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