4 resultat
Hereditary Tyrosinemia type 1 (HT-1) is a rare genetic disorder in which the newborn child lacks the ability to break down the amino acid tyrosine. As a result of this deficiency, toxic sub-stances build up in the blood and can cause liver failure, kidney dysfunction and neurological problems. There
The term renal tubular acidosis (RTA) is applied to a group of transport defects in the reabsorption of bicarbonate (HCO3_), the excretion of hydrogen ion (H_), or both. This condition was first described in 1935, confirmed as a renal tubular disorder in 1946, and designated "renal tubular acidosis"
Hypophosphatasia (HPP) is a rare genetic disorder characterized the abnormal development of bones and teeth. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. These minerals are required for proper
Vitamin D, an essential micronutrient has a biological function in the formation and maintenance of strong bones. Vitamin D may help maintain a healthy immune system. In vitro studies have shown that 1,25-dihydroxyvitamine D3 (1,25(OH)2D3), the active metabolite of vitamin D is important for