-
Article
Open AccessMitochondrial mosaics in the liver of 3 infants with mtDNA defects
In muscle cytochrome oxidase (COX) negative fibers (mitochondrial mosaics) have often been visualized.
-
Article
Effects of selenium supplementation on thyroid hormone metabolism in phenylketonuria subjects on a phenylalanine restricted diet
Type I 5′-deiodinase was recently characterized as a selenocysteine-containing enzyme in humans and other mammals. Up to now, the effect of selenium (Se) supplementation on thyroid hormone metabolism in humans...
-
Article
67 USE OF POCKET COMPUTER BY PATIENTS WITH METABOLIC DISORDERS TO ADJUST THEIR DAILY NUTRITIONAL INTAKE
After 5 years of age, one of the major problems to continue a special diet by patient with metabolic disorders is the anorexia. A likely cause is an imbalance due to the scarcity of choice in foodstuff availab...
-
Article
90 PLASMA FATTY ACIDS IN PARENTERALLY FED PREMATURE AND TERM BORN INFRANTS: CHANGES INDUCED BY INTRALIPID AND SUNFLOWER-SEED OIL
Premature infants receiving PN free of fat soon develop essential fatty acid (EFA) deficiency, whereas they often have less than 1% of their body weight as fatdeposit. Experience has shown that Intralipid (IL)...
-
Article
Liver Peroxisome Damage during Acute Hepatic Failure in Partial Ornithine Transcarbamylase Deficiency
Summary: A boy with ornithine transcarbamylase (OTC) deficiency was relatively symptom free for 9 months and then developed an acute episode with liver failure and metabolic imbalance. Subsequently there was s...
