Morquio-B disease, spondyloepiphyseal dysplasia associated with acid β-galactosidase deficiency. Report of three cases in one family
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF00289478.pdf
Reference26 articles.
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2. Arbisser AI, Donnelly KA, Scott CI, Di Ferrante N, Singh J, Stevenson RE, Aylsworth AS, Howell RR (1977) Mild Morquio syndrome (MPS-IV B) with keratansulfaturia but normal 6-sulfatase activity. Am J Med Genet 1:195?205
3. Bitter T, Muir HM (1962) A modified uronic acid carbazole reaction. Anal Biochem 4:330?334
4. Di Ferrante N, Rich C (1956) The mucopolysaccharide of normal human urine. Clin Chim Acta 1:519?524
5. Fortuin JJH, Kleijer WJ (1978) Pericellular glycosaminoglycans in cultured human cells. A possible source of error in prenatal diagnosis of mucopolysaccharidosis. Clin Chim Acta 82:79?83
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