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pro vyhledávání: '"Mohammad-Reza Sharbatdaralaei"'
Autor:
Seyed-Hasan Tonekaboni, Hamid Nemati, Mohammad-Reza Sharbatdaralaei, Farzad Ahmadabadi, Mohammad Ghofrani, Mohammad-Mahdi Taghdiri, Narjes Jafari, Zahra Pirzadeh, Parvaneh Karimzadeh, Sayena Jabbehdari
Publikováno v:
International Journal of Developmental Disabilities. 61:177-181
Background:Glutaric aciduria type 1 is a rare congenital neurometabolic disorder with autosomal recessive inheritance. This disorder is caused by a defect in glutaryl-CoA dehydrogenase enzyme and presents with hypotonia, spasticity, rigidity, seizure