Inborn errors of metabolism from neonatal screening to metabolic pathways
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| Format: | Buch |
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| Sprache: | English |
| Veröffentlicht: |
New York, NY
Oxford Univ. Press
2015
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| Schriftenreihe: | Oxford monographs on medical genetics
64 |
| Schlagworte: | |
| Online-Zugang: | Inborn errors of metabolism |
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| Beschreibung: | Includes bibliographical references Newborn screening for inborn errors of metabolism: introduction and approaches for confirmation / V. Reid Sutton and Brett H. Graham -- Human glycosylation disorders : many faces, many pathways / Hudson H. Freeze, Erik A. Eklund and Donna M. Krasnewich -- Gluconeogenesis / Erin M. Coffee and Dean R. Tolan -- Branched chain amino acid metabolism / I. Manoli and Charles Venditti -- Glycolysis / Areeg El-Gharbawy and Dwight Koeberl -- Urea cycle : ureagenesis and non-ureagenic functions / Oleg A. Shchelochkov, Sandesh CS Nagamani, Philippe M. Campeau, Ayelet Erez, Brendan H. Lee -- Fatty acid metabolism and defects / Marwan S. Shinawi and Lutfi A. Abu-Elheiga -- Mitochondrial disorders / Ayman W El-Hattab and Fernando Scaglia -- Cholesterol, sterols, and isoprenoids / Yasemen Eroglu, Jean-Baptiste Roullet, and Robert D. Steiner -- Disorders of one carbon metabolism / Luis Umana and William J. Craigen -- Neurotransmission and neurotoxicity (PKU and dopamine) / Uta Lichter-Konecki -- Ce |
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| Beschreibung: | X, 366 S. Ill., graph. Darst. |
| ISBN: | 9780199797585 0199797587 |