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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846631/ https://www.ncbi.nlm.nih.gov/pubmed/24016420 http://dx.doi.org/10.1186/1756-0500-6-362 |