메뉴 건너뛰기
Archives of Pediatrics and Adolescent Medicine
Volumn 154, Issue 1, 2000, Pages 85-86
Picture of the month
Author keywords

[No Author keywords available]
Indexed keywords

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; HUNTER SYNDROME; MALE; PRIORITY JOURNAL; GENETIC LINKAGE; GENETICS; PROGNOSIS; RECESSIVE GENE; X CHROMOSOME;
EID: 0033628492     PISSN: 10724710     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)
References (10)
  • 1
    • 0025150454 scopus 로고
    • Hunter syndrome (mucopolysaccharidosis II)
    • Finlayson LA. Hunter syndrome (mucopolysaccharidosis II). Pediatr Dermatol. 1990;7:150-152.
    • (1990) Pediatr Dermatol , vol.7 , pp. 150-152
    • Finlayson, L.A.1
  • 4
    • 0025869960 scopus 로고
    • Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome
    • Wilson PJ, Suthers GK, Callen DF, et al. Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome. Hum Genet. 1991;86:505-508.
    • (1991) Hum Genet , vol.86 , pp. 505-508
    • Wilson, P.J.1    Suthers, G.K.2    Callen, D.F.3
  • 5
    • 0027142502 scopus 로고
    • Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene
    • Hopwood JJ, Bunge S, Morris CP, et al. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. Hum Mutat. 1993; 2:435-442.
    • (1993) Hum Mutat , vol.2 , pp. 435-442
    • Hopwood, J.J.1    Bunge, S.2    Morris, C.P.3
  • 6
    • 0027532204 scopus 로고
    • Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk
    • Schroder W, Petruschka L, Wehnert M, et al. Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk. J Med Genet 1993;30:210-213.
    • (1993) J Med Genet , vol.30 , pp. 210-213
    • Schroder, W.1    Petruschka, L.2    Wehnert, M.3
  • 7
    • 0027935897 scopus 로고
    • Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis: A 47, XXY male heterozygous for a missense point mutation
    • Bunge S, Steglich C, Lorenz P, et al. Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis: a 47, XXY male heterozygous for a missense point mutation. Prenat Diagn. 1994;14:777-780.
    • (1994) Prenat Diagn , vol.14 , pp. 777-780
    • Bunge, S.1    Steglich, C.2    Lorenz, P.3
  • 8
    • 0025789001 scopus 로고
    • First-trimester diagnosis of Hunter syndrome: Very low iduronate sulphatase activity in chorionic villi from a heterozygous female fetus
    • Cooper A, Thornley M, Wraith JE. First-trimester diagnosis of Hunter syndrome: very low iduronate sulphatase activity in chorionic villi from a heterozygous female fetus. Prenat Diagn. 1991;11:731-735.
    • (1991) Prenat Diagn , vol.11 , pp. 731-735
    • Cooper, A.1    Thornley, M.2    Wraith, J.E.3
  • 10
    • 0030933508 scopus 로고    scopus 로고
    • Gene therapy for neurologic disease: Benchtop discoveries to bedside applications, 2: The bedside
    • Maria BL, Medina CD, Hoang KB, Phillips MI. Gene therapy for neurologic disease: benchtop discoveries to bedside applications, 2: the bedside. J Child Neurol. 1997;12:77-84.
    • (1997) J Child Neurol , vol.12 , pp. 77-84
    • Maria, B.L.1    Medina, C.D.2    Hoang, K.B.3    Phillips, M.I.4

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.