Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy

Author:

Mohamed Sarar,Kambal Mohammed A,Al Jurayyan Nasir A,Al-Nemri Abdulrahman,Babiker Amir,Hasanato Rana,Al-Jarallah Abdullah S

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Reference14 articles.

1. Mitchell GA, Grompe M, Lambert M, Tanguay RM: Hypertyrosinemia : the metabolic and molecular bases of inherited disease. Edited by: Scriver CR, Beaudet A, Sly WS, Valle D. 2001, New York: McGraw Hill, 1777-1806. 5

2. Rashed MS, Al-Ahaidib LY, Al-Dirbashi OY: Tandem mass spectrometric assay of succinylacetone in urine for diagnosis of hepatorenaltyrosinemia. Anal Biochem. 2005, 339: 310-317. 10.1016/j.ab.2005.01.014.

3. Rashad M, Nassar C: Tyrosinemia type 1: a case report. Sudan J Pediatr. 2011, 11 (1): 64-67.

4. Wilkinson J, Sleeper L, Alvarez J, Bublik N, Lipshultz S: The pediatric cardiomyopathy registry: 1995–2007. ProgPediatrCardiol. 2008, 25 (1): 31-36.

5. Nugent AW, Daubeney PEF, Chondros P, Carlin JB, Cheung M, Wilkinson LC, Davis AM, Kahler SG, Chow CW, Wilkinson JL, Weintraub RG: National Australian childhood cardiomyopathy study.: the epidemiology of childhood cardiomyopathy in Australia. N Engl J Med. 2003, 348 (17): 1639-1646. 10.1056/NEJMoa021737.

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