A severe infantile sialidosis (?-galactosidase-?-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1

Author:

Okada S.,Sugino H.,Kato T.,Yutaka T.,Koike M.,Dezawa T.,Yamano T.,Yabuuchi H.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference23 articles.

1. 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

2. D'Azzo A, Hoogeveen A, Reuser AJJ, Robinson D, Galjaard H (1982) Molecular defect in combined ?-galactosidase and neuraminidase deficiency in man. Proc Natl Acad Sci USA 79: 4535?4539

3. Galjaard H, Hoogeveen A, Keijzer W, de Wit-Verbeek HA, Reuser AJJ, Ho MW, Robinson D (1975) Genetic heterogeneity in GM1-gangliosidosis. Nature 257:60?62

4. Gravel RA, Lowden J, Callahan JW, Wolfe LS, Ng Yin Kin NMK (1979) Infantile sialidosis: A phenocopy of type 1 GM1-gangliosidosis distinguished by genetic complementation and urinary oligosaccharides. Am J Hum Genet 31:669?679

5. Hoeksema HL, van Diggelen OP, Galjaard H (1980) Intergenic complementation after fusion of fibroblasts from different patients with ?-galactosidase deficiency. Biochem Biophys Acta 566:72?79

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