Results 151 to 160 of about 8,658 (196)
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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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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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[Inborn errors of amino acid metabolism].
Nihon rinsho. Japanese journal of clinical medicine, 1992Several conditions and disorders were caused by enzyme defects in metabolism of imino acids. Hyperprolinemia type I and type II, hyperhydroxyprolinemia, imidopeptiduria (prolidase deficiency) were related to proline and/or hydroxyproline metabolism. Sarcosinemia and abnormality in pipecolic acid metabolism were also classified as inborn errors of imino
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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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Amino and organic acid analysis: Essential tools in the diagnosis of inborn errors of metabolism
2019Inborn errors of metabolism (IEMs) are a large class of genetic disorders that result from defects in enzymes involved in energy production and metabolism of nutrients. For every metabolic pathway, there are defects that can occur and potentially result in an IEM.
William S. Phipps +2 more
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Seminars in Perinatology, 1999
Disorders of amino acid and organic acid metabolism collectively represent a group of over 70 inherited diseases that are most frequently encountered in the neonatal period. A neonate with clinical symptoms caused by one of these disorders is a real clinical emergency, a situation complicated by the similarities to the manifestations seen in sepsis or ...
BURLINA A, Bonafe L, Zacchello F
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Disorders of amino acid and organic acid metabolism collectively represent a group of over 70 inherited diseases that are most frequently encountered in the neonatal period. A neonate with clinical symptoms caused by one of these disorders is a real clinical emergency, a situation complicated by the similarities to the manifestations seen in sepsis or ...
BURLINA A, Bonafe L, Zacchello F
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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 ...
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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 ...
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Urine Amino Acid Analysis by HPLC in the Investigation of Inborn Errors of Metabolism
1986Reversed-phase high performance liquid chromatography (HPLC) of o-phthalal-dehyde (OPA) derivatives provides a technique that is readily applicable to the estimation of free amino acids (Turnell and Cooper, 1982; Griffin etal., 1982; Price et al., 1984; Palmer, 1985).
V. G. Oberholzer +5 more
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INBORN ERRORS OF AMINO-ACID METABOLISM [PDF]
British Medical Bulletin, 1969 openaire +2 more sources
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 ...
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