Results 291 to 300 of about 45,424 (315)
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2012
Inborn errors of metabolism are disorders of great importance to physicians treating newborns because rapid diagnosis and appropriate treatment of these conditions are directly related to the patient’s outcome in terms of mortality and morbidity. Although individually rare, as a group these diseases are relatively frequent and collectively their ...
BRUNETTI PIERRI, NICOLA +2 more
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Inborn errors of metabolism are disorders of great importance to physicians treating newborns because rapid diagnosis and appropriate treatment of these conditions are directly related to the patient’s outcome in terms of mortality and morbidity. Although individually rare, as a group these diseases are relatively frequent and collectively their ...
BRUNETTI PIERRI, NICOLA +2 more
openaire +3 more sources
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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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
C. J. Rebouche, A. G. Engel
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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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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" 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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Journal of Pediatric Endocrinology and Metabolism, 2020
Wieland Kiess +2 more
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Wieland Kiess +2 more
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Inborn Errors of Fructose Metabolism
Annual Review of Nutrition, 1994METABOLISM OF FRUcrOSE .. . . . . . . . . . . . . . . . . . . . . . . . . . . . • . • . • . . . . . . . . . . 42 Enzymes of Fructost Metabolism .... . .... . ... . .. . ........ . . . . . . . . . . . . . . . . 42 Alternate Pathways of Fructose Metabolism ...... . . . . . . . . . . . . . . . . . . . . . . .. . .
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Pediatric Clinics of North America, 1967
William H. Crouch, Clara May Evanhoe
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William H. Crouch, Clara May Evanhoe
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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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