Author:
Verheijen Frans W.,Verbeek Elly,Aula Nina,Beerens Cecile E.M.T.,Havelaar Adrie C.,Joosse Marijke,Peltonen Leena,Aula Pertti,Galjaard Hans,van der Spek Peter J.,Mancini Grazia M.S.
Publisher
Springer Science and Business Media LLC
Reference30 articles.
1. Aula, P. et al. 'Salla disease': a new lysosomal storage disorder. Arch. Neurol. 36, 88–94 (1979).
2. Gahl, W.A., Schneider, J.A. & Aula, P.P. Lysosomal transport disorders: cystinosis and sialic acid storage disorders. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 3763–3797 (McGraw-Hill, New York, 1995).
3. Stevenson, R.E. et al. Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. Pediatrics 72, 441–449 (1983).
4. Haataja, L. et al. Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. Neuropediatrics. 25, 1–7 (1994).
5. Mancini, G.M.S., de Jonge, H.R., Galjaard, H. & Verheijen, F.W. Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides. J. Biol. Chem. 264, 15247–15254 (1989).
Cited by
241 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献