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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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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 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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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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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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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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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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2017
Inborn errors of metabolism (IEMs) are a group of genetic disorders characterized by biochemical function abnormalities. Early diagnosis leads to early initiation of treatment and a significant decrease in morbidity and mortality. Infants and toddlers with inborn errors of metabolism may be candidates for hematopoietic stem cell transplantation (HSCT),
Allison L. Goetsch +2 more
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Inborn errors of metabolism (IEMs) are a group of genetic disorders characterized by biochemical function abnormalities. Early diagnosis leads to early initiation of treatment and a significant decrease in morbidity and mortality. Infants and toddlers with inborn errors of metabolism may be candidates for hematopoietic stem cell transplantation (HSCT),
Allison L. Goetsch +2 more
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Inborn Errors of Metabolism [PDF]
, 1983 O’Brien has described the progress made in identifying lipid storage diseases as “enzymes to prevention.” (O’Brien, 1973). The lipid-storage diseases, called “lipidoses,” have been known since 1881 when Warren Tay, a British opthalmologist, together with Bernard Sachs, described a disease associated with the decline and finally arrest of cerebral ...
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Metabolomics in cancer research and emerging applications in clinical oncology
Ca-A Cancer Journal for Clinicians, 2021Daniel R Schmidt +2 more
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