Results 231 to 240 of about 167,642 (275)
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Clinical trials examining treatments for inborn errors of amino acid metabolism
Expert Opinion on Orphan Drugs, 2016ABSTRACTIntroduction: More than half a century ago, phenylketonuria (PKU) became the first treatable inborn error of metabolism identified through newborn screening, ushering in a new era of metabolic medicine. Since that time, the underlying cause of numerous other inborn errors have been elucidated and added to newborn screening panels.
Amy Goldstein, Jerry Vockley
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Pediatrics, 1967
It is clear that, although further screening programs of neurologically defective subjects are bound to uncover more unusual defects in intermediary metabolism, we are still at a loss to explain the pathogenesis for the cerebral abnormality in the most common of the amino acid disorders.
J. Menkes
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It is clear that, although further screening programs of neurologically defective subjects are bound to uncover more unusual defects in intermediary metabolism, we are still at a loss to explain the pathogenesis for the cerebral abnormality in the most common of the amino acid disorders.
J. Menkes
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Acta Paediatrica, 1989
ABSTRACT. During the last decade it has become increasingly clear that severe hypoglycemia may be caused by specific enzymatic defects of amino acid and fatty acid metabolism. Several reports have presented hypoglycemic syndromes with reduced fatty acid transport or oxidation, decreased ketogenesis, or abnormalities of the Krebs cycle and electron ...
O. Søvik
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ABSTRACT. During the last decade it has become increasingly clear that severe hypoglycemia may be caused by specific enzymatic defects of amino acid and fatty acid metabolism. Several reports have presented hypoglycemic syndromes with reduced fatty acid transport or oxidation, decreased ketogenesis, or abnormalities of the Krebs cycle and electron ...
O. Søvik
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Pathogenesis of Brain Dysfunction in Inborn Errors of Amino Acid Metabolism
1975It is now only four decades since Folling’s original description of the condition he termed Imbecillitas phenylpyrouvica,(1) or phenylpyruvic oligophrenia, which was the first clear association of an inherited disorder of amino acid metabolism with brain dysfunction.
Harris H. Tallan +3 more
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Alanine Decreases the Protein Requirements of Infants with Inborn Errors of Amino Acid Metabolism
Journal of Neurogenetics, 1985Supplementation with alanine was found to increase growth in weight and nitrogen balance in 5 infants with a variety of inborn errors of amino acid metabolism receiving diets restricted in protein. The addition of alanine to the regimen led to a mean increase in weight of 15 g/day.
Jon A. Wolff +4 more
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Molecular Genetics and Metabolism, 2006
Essential fatty acids (EFAs), and their longer-chain more-unsaturated derivatives (LCPUFAs) in particular, are essential for normal growth and cognitive development during childhood. Children with inborn errors of amino acid metabolism represent a risk population for a reduced LCPUFA status because their diet is low in EFAs and LCPUFAs.
Vlaardingerbroek, H. +6 more
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Essential fatty acids (EFAs), and their longer-chain more-unsaturated derivatives (LCPUFAs) in particular, are essential for normal growth and cognitive development during childhood. Children with inborn errors of amino acid metabolism represent a risk population for a reduced LCPUFA status because their diet is low in EFAs and LCPUFAs.
Vlaardingerbroek, H. +6 more
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Dietary Management of Inborn Errors of Amino Acid Metabolism With Protein-Modified Diets
Journal of Child Neurology, 1992This paper presents experiences encountered with protein-modified diets (PMD) in the management of 67 patients, aged 1 day to 14 years, followed in the Pediatric Nutrition Clinic in the past 5 years. All had inborn errors of amino acid metabolism : maple syrup urine disease (MSUD), 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency ...
E. Thomas
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INBORN ERRORS OF AMINO-ACID METABOLISM [PDF]
British Medical Bulletin, 1969 C. Scriver
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European Journal of Pediatrics, 1980
The diets of 5 patients with phenylketonuria of maple-syrup-urine disease were supplemented with yeast which was rich in selenium. For 120 days the patients received 45 micrograms Se/day to increase the Se content of their diets to 10--12 ng Se/Kjoule.
L. E. Feinendegen +4 more
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The diets of 5 patients with phenylketonuria of maple-syrup-urine disease were supplemented with yeast which was rich in selenium. For 120 days the patients received 45 micrograms Se/day to increase the Se content of their diets to 10--12 ng Se/Kjoule.
L. E. Feinendegen +4 more
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