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Volumn 18, Issue 6, 2006, Pages 595-597

It does matter: The importance of making the diagnosis of a genetic syndrome

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE BETA; BISPHOSPHONIC ACID DERIVATIVE; IMIGLUCERASE;

EID: 33751006730     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mop.0000247536.78273.78     Document Type: Editorial
Times cited : (18)

References (8)
  • 1
    • 0032615942 scopus 로고    scopus 로고
    • 1998 ASHG presidential address. Making genomic medicine a reality
    • Beaudet AL. 1998 ASHG presidential address. Making genomic medicine a reality. Am J Hum Genet 1999; 64:1-13.
    • (1999) Am J Hum Genet , vol.64 , pp. 1-13
    • Beaudet, A.L.1
  • 2
    • 0035347047 scopus 로고    scopus 로고
    • Healthcare supervision for children with Williams syndrome
    • Committee on Genetics American Academy of Pediatrics. Erratum in Pediatrics 2002; 109:329
    • Committee on Genetics American Academy of Pediatrics. Healthcare supervision for children with Williams syndrome. Pediatrics 2001; 107:1192-1204. Erratum in Pediatrics 2002; 109:329.
    • (2001) Pediatrics , vol.107 , pp. 1192-1204
  • 3
    • 33750326746 scopus 로고    scopus 로고
    • The multidisciplinary evaluation and management of cleft lip and palate
    • (in press)
    • Robin NH, Baty H, Franklin J, et al. The multidisciplinary evaluation and management of cleft lip and palate. Southern Med J 2006 (in press).
    • (2006) Southern Med J
    • Robin, N.H.1    Baty, H.2    Franklin, J.3
  • 4
    • 32944476769 scopus 로고    scopus 로고
    • Enzyme replacement for lysosomal diseases
    • Brady RO. Enzyme replacement for lysosomal diseases. Annu Rev Med 2006; 57:283-296.
    • (2006) Annu Rev Med , vol.57 , pp. 283-296
    • Brady, R.O.1
  • 5
    • 0035562155 scopus 로고    scopus 로고
    • The use of bisphosphonates in children with osteogenesis imperfecta
    • Glorieux FH. The use of bisphosphonates in children with osteogenesis imperfecta. J Pediatr Endocrinol Metab 2001; 14 (Suppl 6):1491-1495.
    • (2001) J Pediatr Endocrinol Metab , vol.14 , Issue.SUPPL. 6 , pp. 1491-1495
    • Glorieux, F.H.1
  • 6
    • 4544306641 scopus 로고    scopus 로고
    • Neuropsychiatric symptoms of fragile X syndrome: Pathophysiology and pharmacotherapy
    • Tsiouris JA, Brown WT. Neuropsychiatric symptoms of fragile X syndrome: pathophysiology and pharmacotherapy. CNS Drugs 2004; 18:687-703.
    • (2004) CNS Drugs , vol.18 , pp. 687-703
    • Tsiouris, J.A.1    Brown, W.T.2
  • 7
    • 32744472831 scopus 로고    scopus 로고
    • Velo-cardio-facial syndrome
    • Butler MG, Meaney FJ, editors. New York: Marcel Dekker
    • Kates WR, Antshel K, Roizen N, et al. Velo-cardio-facial syndrome. In: Butler MG, Meaney FJ, editors. Genetics of developmental disabilities. New York: Marcel Dekker; 2005. p. 912.
    • (2005) Genetics of Developmental Disabilities , pp. 912
    • Kates, W.R.1    Antshel, K.2    Roizen, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.