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Volumn 39, Issue 3, 1997, Pages 153-157

Salla disease - Rare or underdiagnosed?

Author keywords

[No Author keywords available]

Indexed keywords

SIALIC ACID;

EID: 0030981286     PISSN: 00121622     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1469-8749.1997.tb07403.x     Document Type: Article
Times cited : (24)

References (19)
  • 3
    • 0025657010 scopus 로고
    • Enferinedad de Salla (sialuria. Tipo Finlandes). Neuva variante clinica en un primer reconocimiento Argentino
    • de Kremer AD. (1990) Enferinedad de Salla (sialuria. Tipo Finlandes). Neuva variante clinica en un primer reconocimiento Argentino. Medicine 50: 107-16.
    • (1990) Medicine , vol.50 , pp. 107-116
    • De Kremer, A.D.1
  • 8
    • 0022634563 scopus 로고
    • Salla disease variants: Sialoylaciduria encephalopathy with increased sialidase activity in two non-Finnish children
    • Litalo V, Hagberg B, Rapola J, Mansson J, Svennerholm L, Sanner G, Tonny B. (1986) Salla disease variants: sialoylaciduria encephalopathy with increased sialidase activity in two non-Finnish children. Neuropediatrics 17: 44-7.
    • (1986) Neuropediatrics , vol.17 , pp. 44-47
    • Litalo, V.1    Hagberg, B.2    Rapola, J.3    Mansson, J.4    Svennerholm, L.5    Sanner, G.6    Tonny, B.7
  • 11
    • 0021320472 scopus 로고
    • Clinical and laboratory diagnosis of Salla disease in infancy in childhood
    • Renlund M. (1984) Clinical and laboratory diagnosis of Salla disease in infancy in childhood. Journal of Pediatries 104: 232-7.
    • (1984) Journal of Pediatries , vol.104 , pp. 232-237
    • Renlund, M.1
  • 14
    • 0023471321 scopus 로고
    • Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes
    • _ Aula PP. (1987) Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. American Journal of Medical Genetics 28: 377-84.
    • (1987) American Journal of Medical Genetics , vol.28 , pp. 377-384
    • Aula, P.P.1
  • 15
    • 0020691437 scopus 로고
    • Salla disease: A new lysosomal storage disorder with disturbed sialic acid metabolism
    • Aula PP, Raivio KU, Autio S, Saimio K, Rapola, J. Koskela SL, (1983) Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. Neurology 55: 57-66.
    • (1983) Neurology , vol.55 , pp. 57-66
    • Aula, P.P.1    Raivio, K.U.2    Autio, S.3    Saimio, K.4    Rapola, J.5    Koskela, S.L.6
  • 16
    • 0029099241 scopus 로고
    • Lysosomal free scialic acid storage disorders with different phenotypic presentations - Infantile- form Scialic Acid Storage Disease and Salla Disease represent allelic disorders on 6q 14-15
    • Schleutker J, Leppänen P,Månsson J-E, Erikson A, Weissenbach J. Peltonen L, Aula P. (1994) Lysosomal free scialic acid storage disorders with different phenotypic presentations - Infantile- form Scialic Acid Storage Disease and Salla Disease represent allelic disorders on 6q 14-15. American Journal of Human Genetics. 57: 893-901.
    • (1994) American Journal of Human Genetics , vol.57 , pp. 893-901
    • Schleutker, J.1    Leppänen, P.2    Månsson, J.-E.3    Erikson, A.4    Weissenbach, J.5    Peltonen, L.6    Aula, P.7
  • 17
    • 0020458986 scopus 로고
    • Infantile form of sialic acid storage disorder: Clinical ultrastructural and biochemical studies in two siblings
    • Tondeur M, Libert J, Vamos E, van Hoof F, Thomas GH, Strecker G, (1982) Infantile form of sialic acid storage disorder: clinical ultrastructural and biochemical studies in two siblings. European Journal of Pediatrics 139: 142-5.
    • (1982) European Journal of Pediatrics , vol.139 , pp. 142-145
    • Tondeur, M.1    Libert, J.2    Vamos, E.3    Van Hoof, F.4    Thomas, G.H.5    Strecker, G.6
  • 19
    • 0021948831 scopus 로고
    • Familial lysosomal storage disease with generalised vacuolization and sialic aciduria: Sporadic Salla disease
    • Wolburg-Buclikolz K, Schlote W, Baumkotter J, Cantz M, Holder H, Harzer K. (1985) Familial lysosomal storage disease with generalised vacuolization and sialic aciduria: sporadic Salla disease. Neuropediatrics 16: 67-75.
    • (1985) Neuropediatrics , vol.16 , pp. 67-75
    • Wolburg-Buclikolz, K.1    Schlote, W.2    Baumkotter, J.3    Cantz, M.4    Holder, H.5    Harzer, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.