Results 331 to 340 of about 36,711 (394)

Pyroglutamic aciduria--a new inborn error of metabolism.

Scandinavian Journal of Clinical and Laboratory Investigation, 1970
A new metabolic disorder of the urea cycle is described. The patient is a 19-year-old mentally retarded male, who also has other neurological signs of cerebral damage, and suffers from episodic vomitings. Laboratory analyses revealed urinary excretion of
E. Jellum, T. Kluge, H. C. Börresen, O. Stokke, L. Eldjarn   +4 more
semanticscholar   +1 more source

Carnitine metabolism and inborn errors

Journal of Inherited Metabolic Disease, 1984
AbstractCurrent knowledge of the metabolic role, biosynthesis, cellular uptake, excretion and turnover of carnitine is reviewed. The clinical spectrum and possible aetiology of the primary muscle and primary systemic carnitine deficiency syndromes are considered and the various genetic defects of intermediary metabolism which can give rise to secondary
C. J. Rebouche, A. G. Engel
openaire   +3 more sources

Inborn errors of metabolism

The American Journal of Clinical Nutrition, 1979
Human nutrition science and practise to the outsider, at any rate, appears to emphasize the availability, procurement, preparation, and requirement of foodstuffs in man in both health and disease. Special consideration has, of course, been given to defining needs at various ages, the Recommended Dietary Allowances (RDAs), to the biochemistry of ...
openaire   +3 more sources

Inborn errors of metabolism [PDF]

Notes and Records of the Royal Society of London, 1995
Alexander G. Bearn, Archibald Garrod and the Individuality of Man . Oxford, Clarendon Press 1993. Pp. xvi+227, £20. ISBN 0-19-2621459 Archibald Garrod was born in 1857, two years before Darwin’s Origin of Species and eight years before Mendel published his paper on the patterns of inheritance
openaire   +1 more source

Hypothyroidism as an inborn error of metabolism.

Journal of Clinical Endocrinology and Metabolism, 1954
CRETINISM in the United Kingdom is commonly sporadic and athyroidic; iodine intake is adequate but functional thyroid tissue is absent. In areas of endemic goiter, cretins are born with goiters; functional thyroid tissue is available initially but there ...
J. Hutchison, E. Mcgirr
semanticscholar   +1 more source

Inborn Errors of Pterin Metabolism

Annual Review of Nutrition, 1988
HY PERPHENY LALANINEMIA DUE TO TETRAHYDROBIOPTERIN DEFICIENCy 188 GTP Cyclohydrolase I Deficiency 188 6-Pyruvoyl Tetrahydropterin Synthase Deficiency 189 Dihydropteridine Reductase Deficiency 191 Other Forms ...
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Inborn errors of metabolism

Journal of Pediatric Endocrinology and Metabolism, 2020
Wieland Kiess, Anna Kirstein, Skadi Beblo   +2 more
openaire   +3 more sources

Inborn Errors of Fructose Metabolism

Annual Review of Nutrition, 1994
METABOLISM OF FRUcrOSE .. . . . . . . . . . . . . . . . . . . . . . . . . . . . • . • . • . . . . . . . . . . 42 Enzymes of Fructost Metabolism .... . .... . ... . .. . ........ . . . . . . . . . . . . . . . . 42 Alternate Pathways of Fructose Metabolism ...... . . . . . . . . . . . . . . . . . . . . . . .. . .
openaire   +3 more sources

Inborn errors of metabolism

Nutrition & Food Science, 1972
Absorbed nutrients follow three possible pathways in the body. They may be incorporated intact into body components (such as proteins), converted into physiologically essential materials (as in the conversion of tyrosine into thyroxine) or broken down with the release of energy and the formation of elementary excretory products.
openaire   +2 more sources

Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2016
Z. M. Yunus, S. Rahman, Y. Choy, W. Keng, L. Ngu   +4 more
semanticscholar   +1 more source