Yazar "Strauss, Kevin A" için listeleme
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Orthopaedic manifestations of glutaric acidemia Type 1
İmerci, Ahmet; Strauss, Kevin A; Oleas-Santillan, Geovanny F; Miller, Freeman (British Editorial Soc Bone & Joint Surgery, 2020)Purpose: Glutaric acidemia type 1 (GA1), a rare hereditary metabolic disease caused by biallelic mutations of GCDH, can result in acute or insidious striatal degeneration within the first few years of life. We reviewed the ...