Results 191 to 200 of about 161,885 (215)

Inborn Errors of Metabolism

Pediatrics, 1987
To the Editor.— We read with great interest the review by Dr Burton on inborn errors of metabolism.1 These myriad disorders frequently present with clinical manifestations that are associated with a variety of more common neonatal diseases.
T E, Wiswell, M E, Weisse
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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
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Inborn Errors of Metabolism

JAMA, 1960
"Inborn Errors of Metabolism" presents the physician with a concise, easily understood, and practical approach to the problem of diagnosis of hereditary disease. Metabolic errors are discussed in the framework of five major divisions: (1) Disturbances in molecular structure—the hemoglobin variants are the major members of this group at the present time.
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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 ...
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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
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Inborn errors of metabolism

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

Annual Review of Nutrition, 1994
METABOLISM OF FRUcrOSE .. . . . . . . . . . . . . . . . . . . . . . . . . . . . • . • . • . . . . . . . . . . 42 Enzymes of Fructost Metabolism .... . .... . ... . .. . ........ . . . . . . . . . . . . . . . . 42 Alternate Pathways of Fructose Metabolism ...... . . . . . . . . . . . . . . . . . . . . . . .. . .
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Inborn Errors of Metabolism

Pediatric Clinics of North America, 1967
William H. Crouch, Clara May Evanhoe
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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.
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