Infantile sialic acid storage disorder 269920
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Literature:
Baumkötter J et al. (1985) N-Acetylneuraminic acid storage disease. Berra B et al. (1995) Infantile sialic acid storage disease: biochemical studies. Blom HJ et al. (1990) Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. Cameron PD et al. (1990) Sialic acid storage disease. Cooper A et al. (1988) Infantile sialic acid storage disease in two siblings. Haataja L et al. (1994) The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. Haataja L et al. (1992) Exclusion map of Salla disease: attempts to localize the disease gene using a computer program. Hancock LW et al. (1983) N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease. Hancock LW et al. (1982) Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues. Havelaar AC et al. (1999) Transport of organic anions by the lysosomal sialic acid transporter: a functional approach towards the gene for sialic acid storage disease. Havelaar AC et al. (1998) Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter. Lake BD et al. (1989) Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy. Lefebvre G et al. (1999) Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease. Lemyre E et al. (1999) Clinical spectrum of infantile free sialic acid storage disease. Leppänen P et al. (1996) A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect. Mancini GM et al. (1991) Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. Mancini GM et al. (1992) Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. Mancini GM et al. (1986) Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane. Paschke E et al. (1986) Infantile type of sialic acid storage disease with sialuria. Schleutker J et al. (1991) Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease. Schleutker J et al. (1995) Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. Schleutker J et al. (1995) Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15. Sperl W et al. (1990) Nephrosis in two siblings with infantile sialic acid storage disease. Stevenson RE et al. (1983) Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. Thomas GH et al. (1983) Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder. Thomas GH et al. (1989) Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts. Tondeur M et al. (1982) Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. Verheijen FW et al. (1999) A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
