Biotin metabolism defect - A case report

Author:

Rao Ananth N.,Iyer Rajesh B.,Kavitha J.,Koch Minakshi,Suresh Kumar V.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Biochemistry

Reference6 articles.

1. Emery Alan EH, Rimoin David L. Emery & Rimoin’s principles and practice of medical genetics. 4th ed. London, New York: Churchill Livingstone, 2002: 2552-3pp.

2. Morrone A, Malvagia S, Donati MA, Funghini S, Ciani F, Pela I, et al. Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. Am J Med Genet 2002; 111(1):10–18.

3. Scriver Charles R. The metabolic & molecular bases of inherited disease; 8th ed. New York: McGraw-Hill, 2001: 3944–3947 pp.

4. Tang NL, Hui J, Yong CK, Wong LT, Applegarth DA, Vallance HD, et al. A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. Clin Biochem 2003; 36(2):145–149.

5. Rao AN, Varma P, Dhanya S. Hyperammonemia Diagnostic Experience at Metabolism Laboratory. Perinatology 2007;9(1):9–13.

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