A case of neuraminidase deficiency associated with a partial ?-galactosidase defect-Reference-Cited by-同舟云学术

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A case of neuraminidase deficiency associated with a partial ?-galactosidase defect

Published:1979 Issue:4 Volume:130 Page:239-249
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Okada Shintaro,Yutaka Toru,Kato Tomochika,Ikehara Chiiko,Yabuuchi Hyakuji,Okawa Motomi,Inui Mariko,Chiyo Hideaki

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/BF00441360.pdf

Reference33 articles.

1. Bitter, T., Muir, H. M.: A modified uronic acid carbazol reaction. Anal. Biochem. 4, 330?334 (1962)

2. Cantz, M., Gehler, J., Spranger, J.: Mucolipidosis I: Increased sialic acid contenct and deficiency of an ?-N-acetyl-neuraminidase in cultured fibroblasts. Biochem. Biophys. Res. Commun. 74, 732?738 (1977)

3. Goldberg, M. F., Cotlier, E., Fichenscher, I. G., Kenyon, K., Enat, R., Borowsky, S. A.: Macular cherry-red spot, corneal clouding and ?-galactosidase deficiency. Arch. Int. Med. 128, 387?398 (1971)

4. Hindman, J., Cotlier, E.: Glycosidases in normal human leukocytes and abnormalities in GM1 gangliosidosis. Clin. Chem. 18, 971?975 (1972)

5. Koster, J. F., Niermeijer, M. F., Loonen, M. C. B., Galjaard, H.: ?-Galactosidase deficiency in an adult: A biochemical and somatic cell genetic study on a variant of GM1 gangliosidosis. Clin. Genet. 9, 427?432 (1976)

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2. Adult Gmi gangliosidosis: Clinical and biochemical studies on two patients and comparison to other patients called variant or adult Gm1 gangliosidosis;Clinical Genetics;2008-04-23

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