Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Inherited Metabolic Disease"
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
Different Pattern of Cardiovascular Impairment in Methylmalonic Acidaemia Subtypes
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.810495
Abstract: Methylmalonic acidaemia (MMA) has been reported to be associated with cardiovascular involvement, especially for the combined type with homocystinuria. We have screened 80 control subjects and 99 MMA patients (23 isolated type and 76 combined… read more here.
Keywords: combined type; different pattern; methylmalonic acidaemia; isolated type ... See more keywords