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Volumn 74, Issue 5, 2006, Pages 184-188

Hypoplastic left heart syndrome as a manifestation of a special form of the Werdnig-Hoffmann disease;Hypoplastisch linkerhartsyndroom als uiting van een bijzondere vorm van de ziekte van Werdnig-Hoffmann

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ASPHYXIA; AUTOPSY; CASE REPORT; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; HEREDITY; HOMOZYGOSITY; HUMAN; MEDICAL LITERATURE; NEWBORN; PEDIATRICIAN; WERDNIG HOFFMANN DISEASE;

EID: 33750213954     PISSN: 03767442     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (17)
  • 1
    • 0014735873 scopus 로고
    • The genetic component in child mortality
    • Roberts D, Chavez J, Court S. The genetic component in child mortality. Arch Dis Child 1970;45:33-8.
    • (1970) Arch Dis Child , vol.45 , pp. 33-38
    • Roberts, D.1    Chavez, J.2    Court, S.3
  • 2
    • 0018238065 scopus 로고
    • Incidence, prevalence and gene frequency studies of chronic childhood spinal muscular atrophy
    • Pearn J. Incidence, prevalence and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978;15:409-13.
    • (1978) J Med Genet , vol.15 , pp. 409-413
    • Pearn, J.1
  • 3
    • 0027057672 scopus 로고
    • International SMA consortium meeting (26-28 June 1992, Bonn, Germany)
    • Munsat T, Davies K. International SMA consortium meeting (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 1992;2:423-8.
    • (1992) Neuromuscul Disord , vol.2 , pp. 423-428
    • Munsat, T.1    Davies, K.2
  • 4
    • 0027196680 scopus 로고
    • Prospective study of spinal muscular atrophy before age 6 years
    • Iannaccone S, Browne R, Samaha F, et al. Prospective study of spinal muscular atrophy before age 6 years. Pediatr Neurol 1993;9:187-93.
    • (1993) Pediatr Neurol , vol.9 , pp. 187-193
    • Iannaccone, S.1    Browne, R.2    Samaha, F.3
  • 5
    • 0028904953 scopus 로고
    • Natural history in proximal spinal muscular atrophy
    • Zerres K. Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Arch Neurol 1995;52:518-23.
    • (1995) Arch Neurol , vol.52 , pp. 518-523
    • Zerres, K.1    Rudnik-Schoneborn, S.2
  • 6
    • 0036301711 scopus 로고    scopus 로고
    • Spinal muscular atrophy: Recent advances and future prospects
    • Nicole S, Diaz C, Frugier T, et al. Spinal muscular atrophy: recent advances and future prospects. Muscle Nerve 2002;26:4-13.
    • (2002) Muscle Nerve , vol.26 , pp. 4-13
    • Nicole, S.1    Diaz, C.2    Frugier, T.3
  • 7
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Burglen, L.2    Reboullet, S.3
  • 8
    • 0014738771 scopus 로고
    • Selective and non-selective susceptibility for muscle fiber types
    • Engel W. Selective and non-selective susceptibility for muscle fiber types. Arch Neurol 1970;22:97-117.
    • (1970) Arch Neurol , vol.22 , pp. 97-117
    • Engel, W.1
  • 9
    • 0031780085 scopus 로고    scopus 로고
    • The prenatal diagnosis of spinal muscular atrophy
    • Matthijs G, Devriendt K, Fryns J. The prenatal diagnosis of spinal muscular atrophy. Prenat Diagn 1998;18:607-10.
    • (1998) Prenat Diagn , vol.18 , pp. 607-610
    • Matthijs, G.1    Devriendt, K.2    Fryns, J.3
  • 10
    • 0029926857 scopus 로고    scopus 로고
    • Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: Further delineation on the basis of SMN gene deletion findings
    • Rudnik-Schoneborn S, Forkert R, Hahnen E, et al. Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. Neuropediatrics 1996;27:8-15.
    • (1996) Neuropediatrics , vol.27 , pp. 8-15
    • Rudnik-Schoneborn, S.1    Forkert, R.2    Hahnen, E.3
  • 11
    • 0025310718 scopus 로고
    • Spinal muscular atrophy type I combined with atrial septal defect in three children
    • Moller P, Moe N, Saugstad O, et al. Spinal muscular atrophy type I combined with atrial septal defect in three children. Clin Genet 1990;38:81-3.
    • (1990) Clin Genet , vol.38 , pp. 81-83
    • Moller, P.1    Moe, N.2    Saugstad, O.3
  • 12
    • 0029834810 scopus 로고    scopus 로고
    • Clinical and molecular genetic features of congenital spinal muscular atrophy
    • Devriendt K, Lammens M, Schollen E, et al. Clinical and molecular genetic features of congenital spinal muscular atrophy. Ann Neurol 1996;40:731-8.
    • (1996) Ann Neurol , vol.40 , pp. 731-738
    • Devriendt, K.1    Lammens, M.2    Schollen, E.3
  • 13
    • 44949282843 scopus 로고
    • Workshop report - International SMA collaboration
    • Munsat TL Workshop report - International SMA collaboration. Neuromuscul Disord 1991;1:81.
    • (1991) Neuromuscul Disord , vol.1 , pp. 81
    • Munsat, T.L.1
  • 14
    • 0029113456 scopus 로고
    • SMN gene deletion in variant of infantile spinal muscular atrophy
    • Burglen L, Spiegel R, Ignatius E, et al. SMN gene deletion in variant of infantile spinal muscular atrophy. Lancet 1995;346(8970):316-7.
    • (1995) Lancet , vol.346 , Issue.8970 , pp. 316-317
    • Burglen, L.1    Spiegel, R.2    Ignatius, E.3
  • 15
    • 0030478478 scopus 로고    scopus 로고
    • Spinal muscular atrophy combined with congenital heart disease: A report of two cases
    • Mulleners W, Ravenswaay C van, Gabreëls F, et al. Spinal muscular atrophy combined with congenital heart disease: a report of two cases. Neuropediatrics 1996;27:333-4.
    • (1996) Neuropediatrics , vol.27 , pp. 333-334
    • Mulleners, W.1    Van Ravenswaay, C.2    Gabreëls, F.3
  • 16
    • 0031720911 scopus 로고    scopus 로고
    • Large scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease
    • Jong Y, Chang J, Wu J. Large scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease. Neurology 1998;51(3):878-9.
    • (1998) Neurology , vol.51 , Issue.3 , pp. 878-879
    • Jong, Y.1    Chang, J.2    Wu, J.3
  • 17
    • 2642548220 scopus 로고    scopus 로고
    • Spinal muscular atrophy type I (Werdnig-Hoffman disease) with complex cardiac malformation
    • El-Matary E, Kotagiri S, Cameron D, et al. Spinal muscular atrophy type I (Werdnig-Hoffman disease) with complex cardiac malformation. Eur J Fed 2004;163:331-2.
    • (2004) Eur J Fed , vol.163 , pp. 331-332
    • El-Matary, E.1    Kotagiri, S.2    Cameron, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.