Inborn errors of metabolism : from neonatal screening to metabolic pathways / edited by Brendan H. Lee and Fernando Scaglia.
Material type:
- text
- unmediated
- volume
- 9780199797585 (alk. paper)
- 0199797587 (alk. paper)
- Inborn errors of metabolism (Lee)
- 616.3/9042Â 23
- RC627.8Â .I49 2015
- WD 205
Item type | Current library | Collection | Status | Barcode | |
---|---|---|---|---|---|
BOOKS | MWALIMU NYERERE LEARNING RESOURCES CENTRE-CUHAS BUGANDO | NFIC | 2 | EBS3401 |
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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