Konu "T2 Hyperintensity in Both Bilateral Globus Pallidi and Dentate Nuclei are Specific MRI Findings That Point to The Diagnosis of Rare Neurometabolic Diseases Such as MBOAT7 Deficiency" için Scopus İndeksli Yayınlar Koleksiyonu listeleme
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A rare cause of globus pallidus and dentate nucleus hyperintensity in childhood: MBOAT mutation
(Wolters Kluwer Medknow Publications, 2021)Mutations in mammalian membrane-bound O-acyltransferase domain-containing (MBOAT) 7 gene are a rare cause for intellectual disability, developmental delay, autistic findings, epilepsy, truncal hypotonia with appendicular ...