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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Vydáno v:J Inherit Metab Dis
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2021
Témata:
Original Articles
On-line přístup: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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