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Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis

Svenja Scharré, Katharina Mengler, Elena Schnabel‐Besson, Oya Kuseyri Hübschmann, Ali Tunç Tuncel, Georg Friedrich Hoffmann Gf, Sven F. Garbade, Ulrike Mütze, Stefan Kölker

2024Genetics in Medicine13 citationsDOIOpen Access PDF

Topics & Concepts

Maple syrup urine diseaseNeurocognitiveDiseaseMedicineMeta-analysisUrineMaplePediatricsInternal medicinePsychiatryBiologyGeneticsCognitionBotanyAmino acidLeucineMetabolism and Genetic DisordersBiochemical and Molecular ResearchGenomics and Rare Diseases
Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis | Litcius