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Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Aoki Y, Suzuki Y, Sakamoto O et al (1995) Molecular analysis of holocarboxylase synthetase deficiency: a mutation and a single base deletion are predominant in Japanese patients. Biochim Biophys Acta 1272: 168-174.

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  • Aoki Y, Suzuki Y, Li X, et al (1997) Characterization of mutant holocarboxylase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency. Pediatr Res 42: 849-854.

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  • Dupuis L, Leon-Del-Rio A, Leclerc D et al (1996) Clustering of mutations in the biotinbinding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. Hum Mol Genet 5: 1011-1016.

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Authors
  1. O. Sakamoto
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  2. Y. Suzuki
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  3. Y. Aoki
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  4. X. Li
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  5. M. Hiratsuka
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  6. K. Yanagihara
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  7. K. Inui
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  8. T. Okabe
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  9. S. Yamaguchi
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  10. J. Kudoh
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  11. N. Shimizu
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  12. K. Narisawa
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Sakamoto, O., Suzuki, Y., Aoki, Y. et al. Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency. J Inherit Metab Dis 21, 873–874 (1998). https://doi.org/10.1023/A:1005435121933

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  • DOI: https://doi.org/10.1023/A:1005435121933

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