Etiological analysis of neurodevelopmental disabilities: single-center eight-year clinical experience in south China.
Etiology determination of neurodevelopmental disabilities (NDDs) currently remains a worldwide common challenge on child health. We herein reported the etiology distribution feature in a cohort of 285 Chinese patients with NDDs. Although concrete NDD etiologies in 48.4% of the total patients could n...
| Publicado en: | Journal of Biomedicine & Biotechnology pp. 318616 - 318617 |
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| Autores principales: | , , , , , , , , , , |
| Formato: | research Journal Article |
| Publicado: |
Wiley-Blackwell
2011
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=104539424&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 104539424 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 11107243 137K jtl: Journal of Biomedicine & Biotechnology issn: 11107243 maglogo: N pubinfo: dt: 2011 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 104539424 104539424 2011456848 NLM20936111 PMC2948914 104539424 ppf: 318616 ppct: 1 formats: fmt: @attributes: type: P tig: atl: Etiological analysis of neurodevelopmental disabilities: single-center eight-year clinical experience in south China. aug: au: Guo, Li Li, Bing-Xiao Deng, Mei Wen, Fang Jiang, Jian-Hui Tan, Yue-Qiu Song, Yuan-Zong Liu, Zhen-Huan Zhang, Chun-Hua Kobayashi, Keiko Wang, Zi-Neng affil: Department of Pediatrics, The First Affiliated Hospital, Jinan University, No. 613 Huangpu Dadao Xi, Guangzhou, China. sug: subj: Developmental Disabilities Etiology Hereditary Diseases Etiology Adolescence Child Child, Preschool China Chromosome Disorders Prospective Studies Sequence Analysis Developmental Disabilities Epidemiology Developmental Disabilities Developmental Disabilities Metabolism Female Gas Chromatography-Mass Spectrometry Hereditary Diseases Epidemiology Hereditary Diseases Hereditary Diseases Metabolism Infant Infant, Newborn Karyotyping Magnetic Resonance Imaging Male Biochemistry Mass Spectrometry Adolescent: 13-18 years Child: 6-12 years Child, Preschool: 2-5 years Infant: 1-23 months Infant, Newborn: birth-1 month Female Male ab: Etiology determination of neurodevelopmental disabilities (NDDs) currently remains a worldwide common challenge on child health. We herein reported the etiology distribution feature in a cohort of 285 Chinese patients with NDDs. Although concrete NDD etiologies in 48.4% of the total patients could not be identified, genetic diseases (with the proportion of 35.8% in the total cases) including inborn errors of metabolism (IEM) and congenital dysmorphic diseases, constituted the commonest etiology category for NDDs in this study. The two key experimental technologies in pediatric metabolomics, gas chromatography-mass spectrometry (GC-MS), and tandem mass spectrometry (MS-MS), proved to be substantially helpful for the exploration of the NDD etiologies in this clinical investigation. The findings in this paper provided latest epidemiologic information on the etiology distribution of NDDs in Chinese, and the syndromic NDDs caused by citrin deficiency and the novel chromosomal karyotype, respectively, further expanded the etiology spectrum of NDDs. pubtype: Academic Journal doctype: research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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