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Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise

16 May 2020

Abstract excerpt

Organic acidurias (OADs) comprise a biochemically defined group of inherited metabolic diseases. Increasing awareness, reliable diagnostic work-up, newborn screening programs for some OADs, optimized neonatal and intensive care, and the development of evidence-based recommendations have improved neonatal survival and short-term outcome of affected individuals. However, chronic progression of organ dysfunction in...

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PMID: 32412122
DOI: 10.1002/jimd.12254

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