Yazar "Nuoffer, Jean Marc" için WoS İndeksli Yayınlar Koleksiyonu listeleme
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Lethal very long-chain acyl-coa dehydrogenase deficiency with a novel mutation
Kasapkara, Çiğdem Seher; Nuoffer, Jean Marc; Baysoy, Gökhan; Aldudak, Bedri; Özbek, Mehmet Nuri; Akçaboy, Meltem; Largiader, Carlo. R. (Gazi University, 2019)Very long chain acyl-CoA dehydrogenase deficiency is an autosomal recessive genetic disorder in which the first step in the mitochondrial beta-oxidation of fatty acids for 14-20 carbons is defective. Clinical presentation ...