[Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome].

Objective: To analyze the clinical and SLC2A1 gene mutation characteristics of glucose transporter type 1 deficiency syndrome.

Method: The detailed clinical manifestations of six cases were recorded. The laboratory tests including EEG, MRI, blood chemistry, and lumbar puncture were performed.

Stable aqueous dispersion of ZnO quantum dots with strong blue emission via simple solution route.

The aqueous dispersion of ZnO quantum dots (QDs) with strong blue emission (quantum yield of 76%) was synthesized through a simple solution route. The water stability of such QDs is provided by the hydroxyl groups on their surface, and the strong blue emission is suggested to arise from the formation of surface ZnO/oleic acid complexes. Under irradiation, these complexes are thought to absorb the excitation light with 3.

[X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].

Objective: Rett syndrome (RTT) is a severe childhood neurodevelopmental disorder mainly affecting females. The pathogenic gene is located at Xq28, which codes for the methyl-CpG-binding protein 2. MECP2 gene is affected by X chromosome inactivation (XCI).

[Clinical feature of Rett syndrome and MeCP2 genotype/phenotype correlation analysis].

Objective: Rett syndrome (RTT) is a neurodevelopmental disorder which causes severe mental retardation. This study aimed at elucidating clinical features of 66 Chinese RTT cases diagnosed by The Department of Pediatric Neurology, Peking University First Hospital since 1987, and at analysis of the MeCP2 genotype / phenotype correlation.

Methods: Sixty-six RTT cases were followed up every one to two years to get the information of their clinical manifestations and the response to the L-carnitine treatment which was administered to the patients at a dose of 80-100 mg/(kg d).