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010 a| 2014010620;

020 a| 9780199797585 (alk. paper);

020 a| 0199797587 (alk. paper);

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130 0 a| Inborn errors of metabolism (Lee)?| UNAUTHORIZED;

245 10 a| Inborn errors of metabolismh| [electronic resource] :b| from neonatal screening to metabolic pathways /c| edited by Brendan H. Lee and Fernando Scaglia.;

260 a| Oxford ;a| New York :b| Oxford University Press,c| [2015];

300 a| x, 366 pages :b| illustrations ;c| 26 cm.;

504 a| Includes bibliographical references.;

505 0 a| 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.;

506 a| Available only to authorized users.;

538 a| Mode of access: World Wide Web;

650 12 a| Metabolism, Inborn Errors.=| ^A917887;

655 0 a| Electronic books.=| ^A491897;

700 1 a| Lee, Brendan H.?| UNAUTHORIZED;

700 1 a| Scaglia, Fernando.?| UNAUTHORIZED;

856 40 z| Full text available from Ebook Central - Academic Completeu| https://ebookcentral.proquest.com/lib/eastcarolina/detail.action?docID=1814968;

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

Other author	Lee, Brendan H.
Other author	Scaglia, Fernando.
Format	Electronic
Publication Info	Oxford ; New York : Oxford University Press, [2015]
Description	x, 366 pages : illustrations ; 26 cm.
Supplemental Content	Full text available from Ebook Central - Academic Complete
Subjects	Metabolism, Inborn Errors.

Uniform title	Inborn errors of metabolism (Lee)
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.
Bibliography note	Includes bibliographical references.
Access restriction	Available only to authorized users.
Technical details	Mode of access: World Wide Web
Genre/form	Electronic books.
LCCN	2014010620
ISBN	9780199797585 (alk. paper)
ISBN	0199797587 (alk. paper)

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

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