Inborn errors of metabolism :  from neonatal screening to metabolic pathways / 
edited by Brendan H. Lee and Fernando Scaglia. 
 - x, 366 pages :  illustrations ;  26 cm. 
<br/><br/>Includes bibliographical references. 
<br/><br/>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. 
<br/><br/><label>ISBN: </label>9780199797585 (alk. paper) 0199797587 (alk. paper) 
<br/><br/><label>LCCN: </label>2014010620 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Metabolism, Inborn Errors.
<br/><br/><label>LC Class. No.: </label>RC627.8  / .I49 2015 
<br/><br/><label>Dewey Class. No.: </label>616.3/9042 
<br/><br/><label>National Library of Medicine Call No.: </label>WD 205