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Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: Identification of two novel mutations

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Gieselmann V, Polten A, Kreysing J, et al (1989) Arylsulfatase A pseudodeficiency: loss of a polyadenylation signal and N-glycosylation site. Proc Natl Acad Sci USA 86: 9436–9440.

    Google Scholar 

  • Ida H, Rennert OM, Kawame H, et al (1997) Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations. J Inher Metab Dis 20: 67–73.

    Google Scholar 

  • Kolodny EH, Fluharty AL (1995) Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2693–2739.

    Google Scholar 

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  1. Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan

    K. Kurosawa, H. Ida & Y. Eto

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  1. K. Kurosawa
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  2. H. Ida
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  3. Y. Eto
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Kurosawa, K., Ida, H. & Eto, Y. Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: Identification of two novel mutations. J Inherit Metab Dis 21, 781–782 (1998). https://doi.org/10.1023/A:1005405418215

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  • DOI: https://doi.org/10.1023/A:1005405418215

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