Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy
作者： Chih-Jou Lai , Ting-Rong Hsu , Chia-Feng Yang , Shyi-Jou Chen , Ya-Chin Chuang
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摘要: Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of on cognitive development. Patients can survive and physicians development these patients. We established an effective newborn screening program quick clinical diagnostic criteria. Cognitive motor were evaluated using Bayley Scales Infant Toddler Development–Third Edition at 6, 12, 24 months age. The who treated very demonstrate normal no significant change cognition during this period (P = .18 > .05). was positively correlated (r 0.533, P .011). results indicated that therapy could protect up ...
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