Franklin

Inborn errors of metabolism : from neonatal screening to metabolic pathways / edited by Brendan H. Lee and Fernando Scaglia.

Publication:
Oxford ; New York : Oxford University Press, [2015]
Format/Description:
Book
x, 366 pages : illustrations ; 26 cm.
Series:
Oxford monographs on medical genetics.
Oxford monographs on medical genetics
Status/Location:
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Details

Standardized Title:
Inborn errors of metabolism (Lee)
Subjects:
Metabolism, Inborn errors of.
Medical subjects:
Metabolism, Inborn Errors.
Génétique médicale.
Maladies métaboliques.
Contents:
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
Cell and organ transplantation / Alberto Burlina, Andrea Bordugo, Georg F. Hoffmann, and Jochen Meyburg
Gene replacement therapy / Nicola Brunetti-Pierri
Protein replacement therapy / Christine Eng & Gregory Pastores
Chaperone therapy / Marc Patterson
Substrate deprivation theory / Ellen Sidransky.
Notes:
Includes bibliographical references.
Contributor:
Lee, Brendan H., editor.
Scaglia, Fernando, editor.
ISBN:
9780199797585 (alk. paper)
0199797587 (alk. paper)
OCLC:
874093375