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CATASTROPHIC METABOLIC DISEASES PRESENTING IN THE NEWBORN PERIOD
BIOCHEMISTRY IN METABOLISM AND MEDICINE
PATHOPHYSIOLOGY AND DIFFERENTIAL DIAGNOSIS OF CLINICAL DERANGEMENTS
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abnormalities acidemia acidosis aciduria activity alkalosis amino acids ammonia autosomal bicarbonate bilirubin Biochemical Defects blood bone brain calcium carbohydrate catabolism cause cell cholesterol Clinical Features collagen concentration cystine decreased deficiency diagnosis dietary disorders distal effect enzymatic enzyme excretion Fanconi syndrome fatty acids fluid formation fructose function galactose galactosemia genetic gluconeogenesis glucose glycogen storage disease growth HCO3 hemoglobin hepatic hepatomegaly hormone hydrogen hyperammonemia hypocalcemia hypoglycemia inborn errors increased infants inherited interactions intestinal intracellular involved ketone bodies kidney Laboratory levels lipid lipoprotein liver lysine lysosomal manifestations mechanism membrane metabolism mg/dl molecule mucopolysaccharidoses muscle neonatal neurological normal occurs organic oxidation pathway patients Pediatr phosphate plasma porphyria potassium present protein proximal tubule purine pyruvate reabsorption reaction renal result retardation role serum sodium structure substrate symptoms syndrome synthesis synthetase Table therapy tissue transport triglyceride tubular tyrosinemia urea cycle urinary urine vitamin VLDL W.B. Saunders