Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report
Abstract 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 mut...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
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BMC,
2017-07-01T00:00:00Z.
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