Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

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 time. The article received considerable attention,...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2021
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8252715/
https://ncbi.nlm.nih.gov/pubmed/33595124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12370
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