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  • Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis.

Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis.

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2020 Aug Others Fist_Author_Year_PM

Full Author : ['Konanki, Ramesh', 'Akella, Radha Rama Devi', 'Panigrahy, Nalinikanta', 'Chirla, Dinesh Kumar', 'Mohanlal, Smilu', 'Lankala, Reena']
Journal Title : Brain & development
Chapter : Section9
Journal Year : 2020

BACKGROUND: Hyperammonemia and hyperlactatemia in neonates and young children with non-specific biochemical markers poses a diagnostic challenge. An accurate diagnosis is essential for effective management. CASE REPORTS: We present three infants from unre.....

Keywords : ['three indian infant manifest early metabolic crisis', 'mitochondrial carbonic anhydrase va deficiency']