TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Forny, Patrick
A1  - Hörster, Friederike
A1  - Ballhausen, Diana
A1  - Chakrapani, Anupam
A1  - Chapman, Kimberly A.
A1  - Dionisi-Vici, Carlo
A1  - Dixon, Marjorie
A1  - Grünert, Sarah C.
A1  - Grunewald, Stephanie
A1  - Haliloglu, Goknur
A1  - Hochuli, Michel
A1  - Honzik, Tomas
A1  - Karall, Daniela
A1  - Martinelli, Diego
A1  - Molema, Femke
A1  - Sass, Jörn Oliver
A1  - Scholl-Bürgi, Sabine
A1  - Tal, Galit
A1  - Williams, Monique
A1  - Huemer, Martina
A1  - Baumgartner, Matthias R.
T1  - Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
JF  - Journal of Inherited Metabolic Disease
N2  - 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.
KW  - diagnosis and management
KW  - guidelines
KW  - inherited metabolic disease
KW  - methylmalonic acidaemia
KW  - propionic acidaemia
UN  - https://nbn-resolving.org/urn:nbn:de:hbz:1044-opus-53336
SN  - 0141-8955
SS  - 0141-8955
U6  - https://doi.org/10.1002/jimd.12370
DO  - https://doi.org/10.1002/jimd.12370
PM  - 33595124
VL  - 44
IS  - 3
SP  - 566
EP  - 592
PB  - John Wiley & Sons
CY  - Hoboken, NJ, USA
ER  -