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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...

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Библиографические подробности
Опубликовано в: :Iran Biomed J
Главные авторы: Alaei, Mohammad Reza, Kheirkhahan, Meghdad, Talebi, Saeed, Davoudi-Dehaghani, Elham, Keramatipour, Mohammad
Формат: Artigo
Язык:Inglês
Опубликовано: Pasteur Institute of Iran 2020
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7275620/
https://ncbi.nlm.nih.gov/pubmed/31952437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.29252/ibj.24.3.201
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