Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis
Ramesh Konanki, Radha Rama Devi Akella, Nalinikanta Panigrahy, Dinesh Chirla, Smilu Mohanlal, Reena Lankala
Topics & Concepts
HyperlactatemiaHyperammonemiaMedicineHypoglycemiaPediatricsExome sequencingEncephalopathyEtiologyMetabolic acidosisIntensive care medicineInternal medicineEndocrinologyGeneticsBiologyPhenotypeDiabetes mellitusGeneMetabolism and Genetic DisordersMitochondrial Function and PathologyEnzyme function and inhibition