Results 211 to 220 of about 122,438 (258)
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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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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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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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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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Carnitine metabolism and inborn errors
Journal of Inherited Metabolic Disease, 1984AbstractCurrent 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
A G, Engel, C J, Rebouche
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Inborn Errors of Pterin Metabolism
Annual Review of Nutrition, 1988HY 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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Journal of the American Dietetic Association, 1966
V H, Auerbach, A M, Digeorge
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V H, Auerbach, A M, Digeorge
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Journal of Pediatric Endocrinology and Metabolism, 2020
Wieland, Kiess +2 more
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Wieland, Kiess +2 more
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