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

Contributor(s): Material type: TextTextPublisher: Oxford ; New York : Oxford University Press, [2015]Copyright date: ©2015Description: x, 366 pages : illustrations ; 26 cmContent type:
  • text
Media type:
  • unmediated
Carrier type:
  • volume
ISBN:
  • 9780199797585 (alk. paper)
  • 0199797587 (alk. paper)
Uniform titles:
  • Inborn errors of metabolism (Lee)
Subject(s): DDC classification:
  • 616.3/9042 23
LOC classification:
  • RC627.8 .I49 2015
NLM classification:
  • WD 205
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.
Item type: BOOKS
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Holdings
Item type Current library Collection Status Barcode
BOOKS MWALIMU NYERERE LEARNING RESOURCES CENTRE-CUHAS BUGANDO NFIC 2 EBS3401
Total holds: 0

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 -- 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.

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