极微小 发表于 2025-3-30 12:04:08
Reinhard Rackescovered either through newborn screening for hypergalactosemia, or by the chance finding of reducing substance in urine, or by selective urine screening for galactose in infants or older persons examined for nuclear cataracts. In the undiagnosed newborn drinking milk, cataracts develop insidiouslyConstituent 发表于 2025-3-30 12:35:27
Reinhard Rackexercise interolerance. This is associated with muscle stiffness, weakness, and pain on exertion. Semi-ischemic forearm exercise or bicycle ergometer exercise discloses no elevation of the venous lactate level, but marked increases of serum creatine kinase, ammonia, inosine, and hypoxanthine. These p语言学 发表于 2025-3-30 19:17:42
Reinhard Rackety of the affected transporter. SGLT1 deficiency causes intestinal ., a condition that presents with severe osmotic diarrhoea and dehydration soon after birth. In . a harmless renal transport defect characterised by glucosuria at normal blood glucose concentrations as well as the absence of any othe