Organic acidemias
National Institutes of Health
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Inborn errors of metabolism are characterized by a significant heterogeneity in pathophysiological mechanisms and clinical…
Most organic acidemias become clinically apparent during neonatal period or early infancy. Infants typically have severe…
T raber et al (1) recently reported a case of “Subacute bilateral visual loss in methylmalonic acidemia” in a 23-year-old woman…
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B a c kg ro u n d : Org an ic acid d is o rd ers are a g ro u p o f d is o rd ers ch aracterized b y th e excretio n o f non…
Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism, specifically types of organic acidemias…
Objectives To investigate the effect of tandem mass spectrometry on the differential diagnosis of organic acidemias. Methods…
Objective To improve the recognition of nervous system symptoms of inborn errors.Methods Five patients with organic acidemias…