Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
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DOI: 10.1002/jimd.12370
Abstract: Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first… read more here.
Keywords: acidaemia; methylmalonic acidaemia; propionic acidaemia; diagnosis management ... See more keywords