Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
新生儿中链酰基辅酶A脱氢酶缺乏症筛查:区域经验及肉碱缺乏症高发率
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/1750-1172-8-102
Couce, Maria Luz; Sánchez-Pintos, Paula; Diogo, Luisa; Leão-Teles, Elisa; Martins, Esmeralda; Santos, Helena; Bueno, Maria Amor; Delgado-Pecellín, Carmen; Castiñeiras, Daisy E; Cocho, José A; García-Villoria, Judit; Ribes, Antonia; Fraga, José M; Rocha, Hugo