000			03509nam a22003498i 4500
001			CR9780511777905
003			UkCbUP
005			20200124160319.0
006			m|||||o||d||||||||
007			cr||||||||||||
008			100519s2010||||enk o ||1 0|eng|d
020			_a9780511777905 (ebook)
020			_z9780521517812 (hardback)
040			_aUkCbUP _beng _erda _cUkCbUP
050	0	0	_aRC627.8 _b.S55 2010
082	0	0	_a616.3/9042 _222
245	0	0	_aSmall molecule therapy for genetic disease / _cedited by Jess G. Thoene.
264		1	_aCambridge : _bCambridge University Press, _c2010.
300			_a1 online resource (xiii, 223 pages) : _bdigital, PDF file(s).
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
500			_aTitle from publisher's bibliographic system (viewed on 05 Oct 2015).
505	0		_aInfrastructure -- FDA and the Regulation of Small Molecules for Orphan Diseases / Marlene E. Haffner and Tan T. Nguyen -- Office of rare diseases research: serving a coordinating function at the National Institutes of Health / Stephen C. Groft -- Introduction to pharmacokinetics and pharmacodynamics / Juan J.L. Lertora and Konstantina M. Vanevski -- Cofactors -- Biotin and biotin-responsive disorders / Kirit Pindolia and Barry Wolf -- Cobalamin treatment of methylmalonic acidemias Hans C. Andersson -- Sapropterin treatment of phenylketonuria / Barbara K. Burton -- L-carnitine therapy in primary and secondary carnitine deficiency disorders / Susan C. Winter, Brian Schreiber, and Neil R.M. Buist -- Utilization of alternative pathways -- Cysteamine treatment of nephropathic cystinosis Jess G. Thoene -- Nitisinone use in hereditary tyrosinemia and alkaptonuria / Wendy J. Introne, Kevin J. O'Brien, and William A. Gahl -- Alternative waste nitrogen disposal agents for urea cycle disorders / Gregory M. Enns -- PDMP-based glucosylceramide synthesis inhibitors for gaucher and fabry disease / James A. Shayman -- Betaine treatment for the homocystinurias / Amy Lawson-Yuen and Harvey L. Levy -- Metal ion therapy -- Zinc and tetrathiomolybdate for the treatment of Wilson disease / George J. Brewer -- Small copper complexes for treatment of acquired and inherited copper deficiency syndromes / Stephen G. Kaler.
520			_aThoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will enable interested clinician scientists to rapidly survey the field, thus ascertaining what has been done as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. The book closely analyses the cofactors used to augment the function of defective enzymes and the compounds that are able to utilise an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis.
650		0	_aMetabolism, Inborn errors of _xChemotherapy _vHandbooks, manuals, etc.
650		0	_aMetabolism, Inborn errors of _xGene therapy _vHandbooks, manuals, etc.
650		0	_aGenetic disorders _xChemotherapy _vHandbooks, manuals, etc.
700	1		_aThoene, Jess G., _eeditor.
776	0	8	_iPrint version: _z9780521517812
856	4	0	_uhttps://doi.org/10.1017/CBO9780511777905
999			_c521700 _d521698