User menu

Infantile Form of Sialic-acid Storage Disorder - Clinical, Ultrastructural, and Biochemical-studies in 2 Siblings

Bibliographic reference Tondeur, M. ; Libert, J. ; Vamos, E. ; Vanhoof, F. ; Thomas, GH. ; et. al. Infantile Form of Sialic-acid Storage Disorder - Clinical, Ultrastructural, and Biochemical-studies in 2 Siblings. In: European Journal of Pediatrics, Vol. 139, no. 2, p. 142-147 (1982)
Permanent URL
  1. Aula P, Autio S, Raivio KO, Rapola J, Thoden CJ, Koskela SL, Yamashima I (1979) Salla disease. A new lysosomal storage disorder. Arch Neurol 36:88?94
  2. Aylsworth AS, Thomas GH, Hood JL, Malouf N, Libert J (1980) A severe infantile sialidosis: Clinical, biochemical and microscopic features. J Pediatr 96:662?668
  3. Dupont A, Farriaux JP, Biserte G, Montreuil J, Fontaine G (1967) Particularit� de l'ultrastructure h�patique chez un enfant pr�sentant une sialurie. Lille Med 12:654?658
  4. Durand P, Borrone C, Della Cella G (1969) Fucosidosis. J Pediatr 75:665?674
  5. Durand P, Gatti R, Cavalieri S, Borrone C, Tondeur M, Michalski JC, Strecker G (1977) Sialidosis (mucolipidosis I). Helv Paediatr Acta 32:391?400
  6. Fontaine G, Biserte G, Montreuil J, Dupont A, Farriaux JP (1968) La sialurie: Un trouble m�tabolique original. Helv Paediatr Acta [Suppl] XVII:3?32
  7. Haltia M, Palo J, Autio S (1975) Aspartylglycosaminuria: A generalized storage disease. Morphological and histochemical studies. Acta Neuropathol 31:243?255
  8. Hancock LW, Thaler MM, Horwitz AL, Dawson G (1982) Generalized N-acetylneuraminic acid storage disease: Quantitation and identification of the monosaccharide accumulating in brain and other tissues. J Neurochem 38:803?809
  9. Libert J (1980) Diagnosis of lysosomal storage diseases by ultrastructural study of conjunctival biopsies. Pathol Annu Part 1: 37?66
  10. Lowden JA, O'Brien JS (1979) Sialidosis: A review of human neuraminidase deficiency. Am J Hum Genet 31:1?18
  11. Maroteaux P, Humbel R (1976) Les oligosaccharidoses. Arch Fr Pediatr 33:641?643
  12. Spranger J, Wiedemann HR (1970) The genetic mucolipidoses. Hum Genet 9:113?139
  13. Stevenson RE, Taylor HA, Schroer RJ (1982) Sialuria-clinical and laboratory features of a severe infantile form. In: Saul RA (ed) Proceedings of the Greenwood Genetic Center, vol 1, pp 73?78
  14. Thiery JP (1967) Mise en �vid�nce des mucopolysaccharides sur coupes fines en microscopie �lectronique. J Microsc 6:987?997
  15. Thomas GH, Scocca J, Libert J, Vamos E, Miller CS, Reynolds LW (1982) Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder. Pediatr Res (in press)
  16. Thomas GH, Tipton RE, Ch'ien LT, Reynolds LW, Miller CS (1978) Sialidase (?-N-acetyl neuraminidase) deficiency: The enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia. Clin Genet 13:369?379
  17. Warren L (1959) The thiobarbituric assay of sialic acids. J Biol Chem 234:1971?1975