TY  - BOOK
AU  - Lee,Brendan H.
AU  - Scaglia,Fernando
TI  - Inborn errors of metabolism: from neonatal screening to metabolic pathways 
SN  - 9780199797585 (alk. paper)
AV  - RC627.8 .I49 2015
U1  - 616.3/9042 23
PY  - 2015///]
CY  - Oxford, New York
PB  - Oxford University Press
KW  - Metabolism, Inborn Errors
N1  - 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
ER  -