Alkaptonuria: A Case of Familial Inheritance from Hangarki Village in Dharwad District of Karnataka

Author:

Trivedi Dhiraj J.,Naik Prashanth

Publisher

Springer Science and Business Media LLC

Subject

Clinical Biochemistry

Reference15 articles.

1. www.akusociety.org , http://www.rarediseasesindia.org/aku .

2. Rosenberg LE. Storage diseases at amino acid metabolism. In: Wilson JD, Braunwald E, Isselbecher KJ, editors. Harrison’s principles of internal medicine, vol. 2. 12th ed. Humberg: McGraw Hill Book Company; 1991.

3. Zatkova A, de Bernabe DBV, Polakova H, Zavank M, Ferakova E, Bosak V, Valadimir FL, et al. High frequency of alkaptonuria in slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet. 2000;67(5):1333–9 (PMID-11017803).

4. Trivedi DJ, Haridas V. Five Cases of alkaptonuria among two generations of single family in Dharwad, Karnataka (India). Indian J Clin Biochem. ISSN 0970-1915, doi: 10.1007/s12291-015-0488-y .

5. Khadagawat R, Teckchandani R, Garg P, Arya A, Choudhary B. Alkaptonuria: early detection. Indian J Paediatr. 1994;31:593–4.

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