메뉴 건너뛰기




Volumn 22, Issue 6, 2005, Pages 569-571

What syndrome is this?

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE; ALDEHYDE DEHYDROGENASE ISOENZYME 10; UNCLASSIFIED DRUG;

EID: 33644802245     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2005.00143.x     Document Type: Article
Times cited : (9)

References (24)
  • 1
    • 0344581398 scopus 로고
    • Oligophrenia combined with congenital ichthyosiform erythrodermia, spastic syndrome and macular retinal degeneration: A clinical and genetic study
    • Sjögren T. Oligophrenia combined with congenital ichthyosiform erythrodermia, spastic syndrome and macular retinal degeneration: A clinical and genetic study. Acta Genet Statist Med 1956 6 : 80 91.
    • (1956) Acta Genet Statist Med , vol.6 , pp. 80-91
    • Sjögren, T.1
  • 2
    • 0002636920 scopus 로고
    • Oligophrenia in association with congenital ichthyosis and spastic disorders
    • Sjögren T, Larsson T. Oligophrenia in association with congenital ichthyosis and spastic disorders. Acta Psychiatr Scand 1957 32 : 1 112.
    • (1957) Acta Psychiatr Scand , vol.32 , pp. 1-112
    • Sjögren, T.1    Larsson, T.2
  • 3
    • 0029658328 scopus 로고    scopus 로고
    • Update on Sjögren-Larsson syndrome
    • Lacour M. Update on Sjögren-Larsson syndrome. Dermatology 1996 193 : 77 82.
    • (1996) Dermatology , vol.193 , pp. 77-82
    • Lacour, M.1
  • 4
    • 0027337924 scopus 로고
    • Sjögren-Larsson syndrome
    • Rizzo WB. Sjögren-Larsson syndrome. Semin Dermatol 1993 12 : 210 218.
    • (1993) Semin Dermatol , vol.12 , pp. 210-218
    • Rizzo, W.B.1
  • 6
    • 0023818266 scopus 로고
    • Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol: Nicotinamide adenine dinucleotide oxidoreductase activity
    • Rizzo WB, Dammann AL, Craft DA. Sjögren-Larsson syndrome. Impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol: nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest 1988 81 : 738 744.
    • (1988) J Clin Invest , vol.81 , pp. 738-744
    • Rizzo, W.B.1    Dammann, A.L.2    Craft, D.A.3
  • 7
    • 0033594247 scopus 로고    scopus 로고
    • Sjögren-Larsson syndrome: Explaining the skin-brain connection. [comment]
    • Rizzo WB. Sjögren-Larsson syndrome: explaining the skin-brain connection. [Comment] Neurology 1999 52 : 1307 1308.
    • (1999) Neurology , vol.52 , pp. 1307-1308
    • Rizzo, W.B.1
  • 8
    • 0025771376 scopus 로고
    • Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyoses
    • Lake BD, Smith VV, Judge MR, et al. Hexanol dehydrogenase activity shown by enzyme histochemistry on skin biopsies allows differentiation of Sjögren-Larsson syndrome from other ichthyoses. J Inherit Metab Dis 1991 14 : 338 340.
    • (1991) J Inherit Metab Dis , vol.14 , pp. 338-340
    • Lake, B.D.1    Smith, V.V.2    Judge, M.R.3
  • 9
    • 0028171585 scopus 로고
    • The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association
    • [Erratum appeared in Nat Genet 1995 April;9(4):451.]
    • Pigg M, Jagell S, Sillen A, et al. The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. [Erratum appeared in Nat Genet 1995 April;9(4):451.] Nat Genet 1994 8 : 361 364.
    • (1994) Nat Genet , vol.8 , pp. 361-364
    • Pigg, M.1    Jagell, S.2    Sillen, A.3
  • 10
    • 0029664636 scopus 로고    scopus 로고
    • Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
    • De Laurenzi V, Rogers GR, Hamrock DJ, et al. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 1996 12 : 52 57.
    • (1996) Nat Genet , vol.12 , pp. 52-57
    • De Laurenzi, V.1    Rogers, G.R.2    Hamrock, D.J.3
  • 11
    • 0035969896 scopus 로고    scopus 로고
    • Fatty aldehyde dehydrogenase: Genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome
    • Rizzo WB, Lin Z, Carney G. Fatty aldehyde dehydrogenase: genomic structure, expression and mutation analysis in Sjögren-Larsson syndrome. Chem Biol Interact 2001 130-132 : 297 307.
    • (2001) Chem Biol Interact , vol.130-132 , pp. 297-307
    • Rizzo, W.B.1    Lin, Z.2    Carney, G.3
  • 12
    • 0031405111 scopus 로고    scopus 로고
    • A common deletion mutation in European patients with Sjögren-Larsson syndrome
    • Rizzo WB, Carney G, De Laurenzi V. A common deletion mutation in European patients with Sjögren-Larsson syndrome. Biochem Mol Med 1997 62 : 178 181.
    • (1997) Biochem Mol Med , vol.62 , pp. 178-181
    • Rizzo, W.B.1    Carney, G.2    De Laurenzi, V.3
  • 13
    • 0033928449 scopus 로고    scopus 로고
    • Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome
    • Willemsen MA, de Jong JG, van Domburg PH, et al. Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome. J Pediatr 2000 136 : 258 260.
    • (2000) J Pediatr , vol.136 , pp. 258-260
    • Willemsen, M.A.1    De Jong, J.G.2    Van Domburg, P.H.3
  • 14
    • 0033624142 scopus 로고    scopus 로고
    • Sjögren-Larsson syndrome: Accumulation of free fatty alcohols in cultured fibroblasts and plasma
    • Rizzo WB, Craft DA. Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma. J Lipid Res 2000 41 : 1077 1081.
    • (2000) J Lipid Res , vol.41 , pp. 1077-1081
    • Rizzo, W.B.1    Craft, D.A.2
  • 15
    • 0033594248 scopus 로고    scopus 로고
    • Sjögren-Larsson syndrome: Clinical and MRI/MRS findings in FALDH-deficient patients
    • [Comment]
    • van Domburg PH, Willemsen MA, Rotteveel JJ, et al. Sjögren-Larsson syndrome: clinical and MRI/MRS findings in FALDH-deficient patients. [Comment] Neurology 1999 52 : 1345 1352.
    • (1999) Neurology , vol.52 , pp. 1345-1352
    • Van Domburg, P.H.1    Willemsen, M.A.2    Rotteveel, J.J.3
  • 16
    • 0028168989 scopus 로고
    • Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods
    • Rizzo WB, Craft DA, Kelson TL, et al. Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods. Prenat Diagn 1994 14 : 577 581.
    • (1994) Prenat Diagn , vol.14 , pp. 577-581
    • Rizzo, W.B.1    Craft, D.A.2    Kelson, T.L.3
  • 17
    • 0031437319 scopus 로고    scopus 로고
    • First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome
    • Sillen A, Holmgren G, Wadelius C. First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome. Prenat Diagn 1997 17 : 1147 1149.
    • (1997) Prenat Diagn , vol.17 , pp. 1147-1149
    • Sillen, A.1    Holmgren, G.2    Wadelius, C.3
  • 18
    • 0028988595 scopus 로고
    • Topical treatment of Sjögren-Larsson syndrome with calcipotriol
    • Lucker GP, van de Kerkhof PC, Cruysberg JR, et al. Topical treatment of Sjögren-Larsson syndrome with calcipotriol. Dermatology 1995 190 : 292 294.
    • (1995) Dermatology , vol.190 , pp. 292-294
    • Lucker, G.P.1    Van De Kerkhof, P.C.2    Cruysberg, J.R.3
  • 20
    • 0029955227 scopus 로고    scopus 로고
    • An appraisal of acitretin therapy in children with inherited disorders of keratinization
    • Lacour M, Mehta-Nikhar B, Atherton DJ, et al. An appraisal of acitretin therapy in children with inherited disorders of keratinization. Br J Dermatol 1996 134 : 1023 1029.
    • (1996) Br J Dermatol , vol.134 , pp. 1023-1029
    • Lacour, M.1    Mehta-Nikhar, B.2    Atherton, D.J.3
  • 21
    • 0028352186 scopus 로고
    • Unsuccessful dietary treatment of Sjögren-Larsson syndrome
    • Maaswinkel-Mooij PD, Brouwer OF, Rizzo WB. Unsuccessful dietary treatment of Sjögren-Larsson syndrome. J Pediatr 1994 124 : 748 750.
    • (1994) J Pediatr , vol.124 , pp. 748-750
    • Maaswinkel-Mooij, P.D.1    Brouwer, O.F.2    Rizzo, W.B.3
  • 22
    • 0032587208 scopus 로고    scopus 로고
    • Sjögren-Larsson syndrome: Early diagnosis, dietary management and biochemical studies in two cases
    • Taube B, Billeaud C, Labreze C, et al. Sjögren-Larsson syndrome: early diagnosis, dietary management and biochemical studies in two cases. Dermatology 1999 198 : 340 345.
    • (1999) Dermatology , vol.198 , pp. 340-345
    • Taube, B.1    Billeaud, C.2    Labreze, C.3
  • 23
    • 0034019030 scopus 로고    scopus 로고
    • 5-Lipoxygenase inhibition: A new treatment strategy for Sjögren-Larsson syndrome
    • Willemsen MA, Rotteveel JJ, Steijlen PM, et al. 5-Lipoxygenase inhibition: a new treatment strategy for Sjögren-Larsson syndrome. Neuropediatrics 2000 31 : 1 3.
    • (2000) Neuropediatrics , vol.31 , pp. 1-3
    • Willemsen, M.A.1    Rotteveel, J.J.2    Steijlen, P.M.3
  • 24
    • 0035206419 scopus 로고    scopus 로고
    • Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome
    • The editors of The Syndrome Page welcome your manuscripts for consideration. Please submit them by e-mail as Microsoft Word attachments to:. Photographs should be scanned and sent as separate attachments.
    • Willemsen MA, Lutt MA, Steijlen PM, et al. Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome. Eur J Pediatr 2001 160 : 711 717.
    • (2001) Eur J Pediatr , vol.160 , pp. 711-717
    • Willemsen, M.A.1    Lutt, M.A.2    Steijlen, P.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.