Article
Awareness is the name of the game: clinical and biochemical evaluation of a case of a girl diagnosed with acute intermittent porphyria associated with autism.
Cellular and molecular biology (Noisy-le-Grand, France) - 16 Feb 2009
Luder A S, Mamet R, Farbstein I, Schoenfeld N
Abstract excerpt
Neuroporphyrias, a heterogeneous group of metabolic diseases, are diagnosed less often than their true prevalence justifies. Lack of awareness of porphyrias and their protean clinical and biochemical manifestations, is the most significant hurdle to their recognition and diagnosis. These points are reflected in the unusual case reported here, which highlights the potential damage that inappropriate management may...
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