@article{FornyH{\"o}rsterBallhausenetal.2021,
  author    = {Forny, Patrick and H{\"o}rster, Friederike and Ballhausen, Diana and Chakrapani, Anupam and Chapman, Kimberly A. and Dionisi-Vici, Carlo and Dixon, Marjorie and Gr{\"u}nert, Sarah C. and Grunewald, Stephanie and Haliloglu, Goknur and Hochuli, Michel and Honzik, Tomas and Karall, Daniela and Martinelli, Diego and Molema, Femke and Sass, J{\"o}rn Oliver and Scholl-B{\"u}rgi, Sabine and Tal, Galit and Williams, Monique and Huemer, Martina and Baumgartner, Matthias R.},
  title     = {Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision},
  journal   = {Journal of Inherited Metabolic Disease},
  volume    = {44},
  number    = {3},
  issn      = {0141-8955},
  doi       = {10.1002/jimd.12370},
  institution = {Fachbereich Angewandte Naturwissenschaften},
  pages     = {566 -- 592},
  year      = {2021},
  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 time. The article received considerable attention, illustrating the importance of an expert panel to evaluate and compile recommendations to guide rare disease patient care. Since that time, a growing body of evidence on transplant outcomes in MMA and PA patients and use of precursor free amino acid mixtures allows for updates of the guidelines. In this article, we aim to incorporate this newly published knowledge and provide a revised version of the guidelines. The analysis was performed by a panel of multidisciplinary health care experts, who followed an updated guideline development methodology (GRADE). Hence, the full body of evidence up until autumn 2019 was re-evaluated, analysed and graded. As a result, 21 updated recommendations were compiled in a more concise paper with a focus on the existing evidence to enable well-informed decisions in the context of MMA and PA patient care.},
  language  = {en}
}