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Mutations in the Na+-HCO3- co-transporter (NBC1) cause permanent proximal renal tubular acidosis (pRTA) with ocular abnormalities. However, little has been known about the relationship between the degree of NBC1 inactivation and the severity of pRTA. This study identified three new homozygous mutations (T485S, A799V, and R881C) in the common coding regions(More)
Childhood renal osteodystrophy (ROD) is the consequence of disturbances of the calcium-regulating hormones vitamin D and parathyroid hormone (PTH) as well as of the somatotroph hormone axis associated with local modulation of bone and growth cartilage function. The resulting growth retardation and the potentially rapid onset of ROD in children are different(More)
Hypoxic-ischemic cerebral injury that occurs during the perinatal period is one of the most commonly recognized cause of long-term neurological deficit in children, often referred to as cerebral palsy. We describe a case with capillary leak syndrome and seizures to co-morbid status epilepticus related to perinatal hypoxic-ischemic encephalopathy in newborn(More)
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