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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Опубликовано в: :J Inherit Metab Dis
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley & Sons, Inc. 2021
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Original Articles
Online-ссылка: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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