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

BACKGROUND: Tyrosinemia type 1 (TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). TT1 usually presents in infancy with features suggestive of liver disease or with sepsis-like symptoms. CASE PRESENTATION: We report two Saudi siblings with...

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Detalhes bibliográficos
Main Authors: Mohamed, Sarar, Kambal, Mohammed A, Al Jurayyan, Nasir A, Al-Nemri, Abdulrahman, Babiker, Amir, Hasanato, Rana, Al-Jarallah, Abdullah S
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3846631/
https://ncbi.nlm.nih.gov/pubmed/24016420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-6-362
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