메뉴 건너뛰기




Volumn 51, Issue 4, 2000, Pages 250-255

Sjogren-Larsson Syndrome;Sjogren-Larsson-Syndrom

Author keywords

Congenital ichthyosis; Mental retardation; Spastic plegia

Indexed keywords

ALDEHYDE DEHYDROGENASE; ANTICONVULSIVE AGENT; PRIMROSE OIL; VALPROIC ACID; LONG CHAIN ALDEHYDE DEHYDROGENASE; LONG-CHAIN-ALDEHYDE DEHYDROGENASE;

EID: 0342696153     PISSN: 00178470     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001050051113     Document Type: Article
Times cited : (8)

References (34)
  • 1
    • 0342900348 scopus 로고
    • Ultrastructure of inborn errors of keratinization. VI. Inherited ichthyoses, a model system for heterogeneities in keratinization disturbances
    • Anton-Lamprecht I, Schnyder UW (1974) Ultrastructure of inborn errors of keratinization. VI. Inherited ichthyoses, a model system for heterogeneities in keratinization disturbances. Arch Dermatol Forsch 243:88-100
    • (1974) Arch Dermatol Forsch , vol.243 , pp. 88-100
    • Anton-Lamprecht, I.1    Schnyder, U.W.2
  • 6
    • 0015469025 scopus 로고
    • Zur kenntnis von substrat und bedeutung der sog. Schneckenspuren der retina
    • Daicker B (1972) Zur Kenntnis von Substrat und Bedeutung der sog. Schneckenspuren der Retina. Ophthalmologica 165:360-365
    • (1972) Ophthalmologica , vol.165 , pp. 360-365
    • Daicker, B.1
  • 9
    • 0020333740 scopus 로고
    • Sjögren-Larsson syndrome: A dermato-histopathological study
    • Hofer PA, Jagell S (1982) Sjögren-Larsson syndrome: a dermato-histopathological study. J Cutan Pathol 9:360-376
    • (1982) J Cutan Pathol , vol.9 , pp. 360-376
    • Hofer, P.A.1    Jagell, S.2
  • 10
    • 0025761767 scopus 로고
    • Ultrastructural study of the skin in Sjögren-Larsson syndrome
    • Ito M, Oguro K, Sato Y (1991) Ultrastructural study of the skin in Sjögren-Larsson syndrome. Arch Dermatol Res 283:141-148
    • (1991) Arch Dermatol Res , vol.283 , pp. 141-148
    • Ito, M.1    Oguro, K.2    Sato, Y.3
  • 11
    • 0020333560 scopus 로고
    • Sjögren-Larsson syndrome: Physical and neurological features
    • Jagell S, Heijbel J (1982) Sjögren-Larsson syndrome: physical and neurological features. Helv Paediatr Acta 37:519-530
    • (1982) Helv Paediatr Acta , vol.37 , pp. 519-530
    • Jagell, S.1    Heijbel, J.2
  • 12
    • 0020001921 scopus 로고
    • Lchthyosis in the Sjögren-Larsson syndrome
    • Jagell S, Lidén S (1982) lchthyosis in the Sjögren-Larsson syndrome. Clin Genet 21:243-252
    • (1982) Clin Genet , vol.21 , pp. 243-252
    • Jagell, S.1    Lidén, S.2
  • 13
    • 0018852760 scopus 로고
    • Specific changes in the fundus typical for the Sjögren-Larsson syndrome
    • Jagell S, Polland W, Sandgren O (1980) Specific changes in the fundus typical for the Sjögren-Larsson syndrome. Acta Ophthalmol 58:321-330
    • (1980) Acta Ophthalmol , vol.58 , pp. 321-330
    • Jagell, S.1    Polland, W.2    Sandgren, O.3
  • 14
    • 0023139806 scopus 로고
    • Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation
    • Jagell SF, Holmgren G, Hofer PA (1987) Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation. Clin Genet 31:102-108
    • (1987) Clin Genet , vol.31 , pp. 102-108
    • Jagell, S.F.1    Holmgren, G.2    Hofer, P.A.3
  • 17
    • 0029955227 scopus 로고    scopus 로고
    • An appraisal of acitretin therapy in children with inherited disorders of keratinization
    • Lacour M, Mehta-Nikhar B, Atherton DJ, Harper JI (1996) An appraisal of acitretin therapy in children with inherited disorders of keratinization. Br J Dermatol 134:1023-1029
    • (1996) Br J Dermatol , vol.134 , pp. 1023-1029
    • Lacour, M.1    Mehta-Nikhar, B.2    Atherton, D.J.3    Harper, J.I.4
  • 19
    • 0028352186 scopus 로고
    • Unsuccessful dietary treatment of Sjögren-Larsson syndrome
    • Maaswinkel-Mooij PD, Brouwer OF, Rizzo WB (1994) Unsuccessful dietary treatment of Sjögren-Larsson syndrome. J Pediatr 124:748-750
    • (1994) J Pediatr , vol.124 , pp. 748-750
    • Maaswinkel-Mooij, P.D.1    Brouwer, O.F.2    Rizzo, W.B.3
  • 20
    • 0020334013 scopus 로고
    • Studies of the skin in Sjögren-Larsson syndrome by electron microscopy
    • Matsuoka LY, Kousseff BG, Hashimoto K (1982) Studies of the skin in Sjögren-Larsson syndrome by electron microscopy. Am J Dermatopathol 4:295-301
    • (1982) Am J Dermatopathol , vol.4 , pp. 295-301
    • Matsuoka, L.Y.1    Kousseff, B.G.2    Hashimoto, K.3
  • 21
    • 0030294338 scopus 로고    scopus 로고
    • Redefining the Sjögren-Larsson syndrome: Atypical findings in three siblings and implications regarding diagnosis
    • Nigro JF, Rizzo WB, Esterly NB (1996) Redefining the Sjögren-Larsson syndrome: atypical findings in three siblings and implications regarding diagnosis. J Am Acad Dermatol 35:678-684
    • (1996) J Am Acad Dermatol , vol.35 , pp. 678-684
    • Nigro, J.F.1    Rizzo, W.B.2    Esterly, N.B.3
  • 22
    • 0028100996 scopus 로고
    • Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses
    • Paige DG, Morse-Fisher N, Harper JI (1994) Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses. Br J Dermatol 131:23-27
    • (1994) Br J Dermatol , vol.131 , pp. 23-27
    • Paige, D.G.1    Morse-Fisher, N.2    Harper, J.I.3
  • 23
    • 0028171585 scopus 로고
    • The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association
    • Pigg M, Jagell S, Sillén S, Weissenbach J, Gustavson KH, Wadelius C (1994) The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. Nature Gen 8:361-364
    • (1994) Nature Gen , vol.8 , pp. 361-364
    • Pigg, M.1    Jagell, S.2    Sillén, S.3    Weissenbach, J.4    Gustavson, K.H.5    Wadelius, C.6
  • 24
    • 0027337924 scopus 로고
    • Sjögren-Larsson syndrome
    • Rizzo WB (1993) Sjögren-Larsson syndrome. Semin Dermatol 12:210-218
    • (1993) Semin Dermatol , vol.12 , pp. 210-218
    • Rizzo, W.B.1
  • 25
    • 0031405111 scopus 로고    scopus 로고
    • A common deletion mutation in European patients with Sjögren-Larsson syndrome
    • Rizzo WB, Carney G, De Laurenzi V (1997) A common deletion mutation in European patients with Sjögren-Larsson syndrome. Biochem Mol Med 62:178-181
    • (1997) Biochem Mol Med , vol.62 , pp. 178-181
    • Rizzo, W.B.1    Carney, G.2    De Laurenzi, V.3
  • 26
  • 27
    • 0028168989 scopus 로고
    • Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods
    • Rizzo WB, Craft DA, Kelson TL et al. (1994) Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods. Prenat Diagn 14:577-581
    • (1994) Prenat Diagn , vol.14 , pp. 577-581
    • Rizzo, W.B.1    Craft, D.A.2    Kelson, T.L.3
  • 28
    • 0028970501 scopus 로고
    • Genetic homogeneity in Sjögren-Larsson syndrome: Linkage to chromosome 17p in families of different non-Swedish ethnic origins
    • Rogers GR, Rizzo WB, Zlotogorski A, Hashem N, Lee M, Compton JG, Bale SJ (1995) Genetic homogeneity in Sjögren-Larsson syndrome: linkage to chromosome 17p in families of different non-Swedish ethnic origins. Am J Hum Genet 57:1123-1129
    • (1995) Am J Hum Genet , vol.57 , pp. 1123-1129
    • Rogers, G.R.1    Rizzo, W.B.2    Zlotogorski, A.3    Hashem, N.4    Lee, M.5    Compton, J.G.6    Bale, S.J.7
  • 29
    • 0031437319 scopus 로고    scopus 로고
    • First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome
    • Sillén A, Holmgren G, Wadelius C (1997) First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome. Prenat Diagn 17:1147-1149
    • (1997) Prenat Diagn , vol.17 , pp. 1147-1149
    • Sillén, A.1    Holmgren, G.2    Wadelius, C.3
  • 30
    • 0030807667 scopus 로고    scopus 로고
    • A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden
    • Sillén A, Jagell S, Wadelius C (1997) A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden. Hum Genet 100:201-203
    • (1997) Hum Genet , vol.100 , pp. 201-203
    • Sillén, A.1    Jagell, S.2    Wadelius, C.3
  • 31
    • 0002636920 scopus 로고
    • Oligophrenia in combination with congenital ichthyosis and spastic disorders
    • Sjögren T, Larsson T (1957) Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatr Neurol Scand 32 [Suppl 113]:1-113
    • (1957) Acta Psychiatr Neurol Scand , vol.32 , Issue.SUPPL. 113 , pp. 1-113
    • Sjögren, T.1    Larsson, T.2
  • 32
    • 0014635461 scopus 로고
    • Pathological findings in Sjögren-Larsson syndrome
    • Sylvester PE (1968) Pathological findings in Sjögren-Larsson syndrome. J Mental Def Res 13:267-275
    • (1968) J Mental Def Res , vol.13 , pp. 267-275
    • Sylvester, P.E.1
  • 33
    • 0016136389 scopus 로고
    • Sjögren-Larsson syndrome
    • Theile U (1974) Sjögren-Larsson syndrome. Humangenetik 22:91-118
    • (1974) Humangenetik , vol.22 , pp. 91-118
    • Theile, U.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.