@article{FornyHoersterBallhausenetal.2021,
  author    = {Patrick Forny and Friederike H{\"o}rster and Diana Ballhausen and Anupam Chakrapani and Kimberly A. Chapman and Carlo Dionisi-Vici and Marjorie Dixon and Sarah C. Gr{\"u}nert and Stephanie Grunewald and Goknur Haliloglu and Michel Hochuli and Tomas Honzik and Daniela Karall and Diego Martinelli and Femke Molema and J{\"o}rn Oliver Sass and Sabine Scholl-B{\"u}rgi and Galit Tal and Monique Williams and Martina Huemer and Matthias R. Baumgartner},
  title     = {Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision},
  series   = {Journal of Inherited Metabolic Disease},
  volume    = {44},
  number    = {3},
  publisher = {John Wiley \& Sons},
  address   = {Hoboken, NJ, USA},
  issn      = {0141-8955},
  doi       = {10.1002/jimd.12370},
  url       = {https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-53336},
  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}
}