Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report

BACKGROUND: Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations i...

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Detalles Bibliográficos
Autores principales: Chan, Melanie M. Y., Barnicoat, Angela, Mumtaz, Faiz, Aitchison, Michael, Side, Lucy, Brittain, Helen, Bates, Alan W. H., Gale, Daniel P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5530463/
https://www.ncbi.nlm.nih.gov/pubmed/28747166
http://dx.doi.org/10.1186/s12881-017-0436-1

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