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Volumn 70, Issue 24, 2008, Pages 2343-2344

Clinical/scientific notes

Author keywords

[No Author keywords available]

Indexed keywords

AGL GENE; ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL ANALGESIA; CONSANGUINEOUS MARRIAGE; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 3; HOMOZYGOSITY; HUMAN; LIVER DISEASE; LIVER DYSFUNCTION; MALE; MUTATOR GENE; MYOPATHY; NEUROHEPATOPATHY SYNDROME; NOCICEPTION; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; SCHOOL CHILD; SCN9A GENE; SINGLE NUCLEOTIDE POLYMORPHISM; GENETICS; HOMOZYGOTE; INFANT; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; SYNDROME;

EID: 46049104016     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000314731.65875.5c     Document Type: Article
Times cited : (9)

References (7)
  • 1
    • 33748642169 scopus 로고    scopus 로고
    • Navajo neuro-hepatopathy is caused by a mutation in the MPV17 gene
    • Karadimas CL, Vu TH, Holve SA, et al. Navajo neuro-hepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet 2006;79:544-548.
    • (2006) Am J Hum Genet , vol.79 , pp. 544-548
    • Karadimas, C.L.1    Vu, T.H.2    Holve, S.A.3
  • 2
    • 33847215172 scopus 로고    scopus 로고
    • Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation
    • Pasutto F, Sticht H, Hammersen G, et al. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet 2007;80:550-560.
    • (2007) Am J Hum Genet , vol.80 , pp. 550-560
    • Pasutto, F.1    Sticht, H.2    Hammersen, G.3
  • 3
    • 0030447828 scopus 로고    scopus 로고
    • Human glycogen debranching enzyme gene (AGL): Complete structural organization and characterization of the 5′ flanking region
    • Bao Y, Dawson TL, Jr, Chen YT. Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5′ flanking region. Genomics 1996;38:155-165.
    • (1996) Genomics , vol.38 , pp. 155-165
    • Bao, Y.1    Dawson Jr, T.L.2    Chen, Y.T.3
  • 4
    • 34247874778 scopus 로고    scopus 로고
    • Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
    • Goldberg YP, MacFarlane J, MacDonald ML, et al. Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Clin Genet 2007;71:311-319.
    • (2007) Clin Genet , vol.71 , pp. 311-319
    • Goldberg, Y.P.1    MacFarlane, J.2    MacDonald, M.L.3
  • 5
    • 4344696114 scopus 로고    scopus 로고
    • Liver glycogenoses: Are they a possible cause of polyneuropathy? A cross-sectional study
    • Kotb MA, Abdallah HK, Kotb A. Liver glycogenoses: are they a possible cause of polyneuropathy? A cross-sectional study. J Trop Pediatr 2004;50:196-202.
    • (2004) J Trop Pediatr , vol.50 , pp. 196-202
    • Kotb, M.A.1    Abdallah, H.K.2    Kotb, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.