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galactosemias/triglyceride
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The nutritional significance, metabolism, and function of myo-inositol and phosphatidylinositol in health and disease.
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Recent advances in nutritional and biochemical research have substantiated the importance of inositol as a dietary and cellular constituent. The processes involved in the metabolism of inositol and its derivatives in mammalian tissues have been characterized both in vivo and at the enzyme level.
[A difficult and complicated case study: neonatal intrahepatic cholestasis caused by citrin deficiency].
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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a kind of inborn errors of metabolism, with the main clinic manifestations of jaundice, hepatomegaly, and abnormal liver function indices. As a mitochondrial solute carrier protein, citrin plays important roles in aerobic
Abdominal ultrasonography in inheredited diseases of carbohydrate metabolism.
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OBJECTIVE
To determine the usefulness of abdominal sonography in inherited diseases of carbohydrate metabolism.
METHODS
Thirty patients (age range, 4 months to 27 years) with glycogen storage diseases, galactosemia, disorders of fructose metabolism were studied with sonography. Echogenicity of the
Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China.
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BACKGROUND
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a novel inborn error of metabolism due to dysfunction of citrin protein, and much more information about this new disease is still needed for its clinical management.
OBJECTIVE
To investigate in detail the clinical
Nutritional considerations and management of the child with liver disease.
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Nutritional management of the infant and child with liver disease is highly dependent upon the type of liver disease. Acute liver disease, such as that secondary to viral hepatitis, requires no specific nutritional therapy with the exception that branched-chain amino acid supplements may be
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