Burd L, Kemp R, Knull H, Loveless D
Child Evaluation and Treatment Program, Medical Center Rehabilitation Hospital, Grand Forks, North Dakota.
Brain Dev. 1990;12(4):444-8. doi: 10.1016/s0387-7604(12)80081-7.
A review of the current research on selected biochemical pathways and reported abnormalities in the Rett syndrome (RS) is presented. While RS has a clinical course that is similar to known metabolic diseases, consistent abnormal biochemical findings in RS patients have not been identified.
本文对雷特综合征(RS)中选定的生化途径及已报道的异常情况的当前研究进行了综述。虽然RS的临床病程与已知的代谢性疾病相似,但尚未在RS患者中发现一致的异常生化结果。