Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature
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DOI: 10.1097/mcd.0000000000000411
Abstract: Thiamine metabolism dysfunction syndrome-4 (THMD-4) is an autosomal recessive inherited rare disease (OMIM #613710) characterized by febrile illness associated episodic encephalopathy, leading to transient neurological dysfunction and progressive polyneuropathy. We report three patients from two… read more here.
Keywords: dysfunction syndrome; clinical genetic; dysfunction; metabolism dysfunction ... See more keywords