Real‐world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid‐free formulas in France and Germany: A retrospective observational study

Maple syrup urine disease (MSUD) is a rare inborn metabolic disorder, managed with a strict protein‐restricted diet. At any time or age patients may still experience metabolic decompensations, requiring administration of branched chain amino acid (BCAA)‐free formula to reduce leucine levels. This re...

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Gepubliceerd in:JIMD Rep
Hoofdauteurs: de Lonlay, Pascale, Posset, Roland, Mütze, Ulrike, Mention, Karine, Lamireau, Delphine, Schiff, Manuel, Servais, Aude, Arnoux, Jean Baptiste, Brassier, Anaïs, Dao, Myriam, Douillard, Claire, Ottolenghi, Chris, Pontoizeau, Clément, Miotto, Federica, Le Mouhaër, Jeannie
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley & Sons, Inc. 2021
Onderwerpen:
Research Reports
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8100389/
https://ncbi.nlm.nih.gov/pubmed/33977036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12207
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