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000722565 020__ $$a9783642403378$$qelectronic book
000722565 020__ $$a3642403379$$qelectronic book
000722565 020__ $$z9783642403361
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000722565 0247_ $$a10.1007/978-3-642-40337-8$$2doi
000722565 035__ $$aSP(OCoLC)ocn874142358
000722565 035__ $$aSP(OCoLC)874142358
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000722565 049__ $$aISEA
000722565 050_4 $$aRC627.8
000722565 08204 $$a616.39042$$223
000722565 24500 $$aPhysician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases$$h[electronic resource] /$$cNenad Blau, Marinus Duran, K. Michael Gibson, Carlo Dionisi-Vici, editors.
000722565 264_1 $$aBerlin :$$bSpringer,$$c[2014]
000722565 264_4 $$c©2014
000722565 300__ $$a1 online resource.
000722565 336__ $$atext$$btxt$$2rdacontent
000722565 337__ $$acomputer$$bc$$2rdamedia
000722565 338__ $$aonline resource$$bcr$$2rdacarrier
000722565 5050_ $$aIntroductory Chapters -- Amino acids -- Organic acids -- Vitamins and neurotransmitter -- Energy metabolism -- Organelles -- Selected disorder -- Biochemical phenotypes of questionable clinical significance -- Profiles.
000722565 506__ $$aAccess limited to authorized users.
000722565 520__ $$aThis book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. The clinical and laboratory data characteristic of the ever-growing number of rare metabolic conditions can be bewildering for the general clinician. Reference laboratory data are scattered and clinical descriptions maybe obscure. The Physician's Guide documents the features of more than five hundred conditions, grouped according to disorder category. Relevant clinical findings are provided and pathological values for diagnostic metabolites are provided. Signs and symptoms are provided for each disorder from birth through adulthood. In addition, the role of biochemical genetic testing is outlined. Treatment protocols and experimental therapies are fully described, with guidance on follow-up and monitoring. The authors are acknowledged experts from across the world, and the book will be invaluable to all who deal with patients with inherited metabolic diseases, including pediatricians, internists, neurologists, and clinical geneticists, as well as clinical and biochemical geneticists.
000722565 588__ $$aDescription based on print version record.
000722565 650_0 $$aMetabolism, Inborn errors of$$xDiagnosis.
000722565 650_0 $$aMetabolism, Inborn errors of$$xTreatment.
000722565 7001_ $$aBlau, N.$$q(Nenad),$$d1946-$$eeditor.
000722565 7001_ $$aDuran, Martinus,$$eeditor.
000722565 7001_ $$aGibson, K. Michael,$$eeditor.
000722565 7001_ $$aDionisi-Vici, Carlo,$$eeditor.
000722565 77608 $$iPrint version:$$tPhysician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases$$z9783642403361$$w(OCoLC)872988950
000722565 852__ $$bebk
000722565 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-3-642-40337-8$$zOnline Access$$91397441.1
000722565 909CO $$ooai:library.usi.edu:722565$$pGLOBAL_SET
000722565 980__ $$aEBOOK
000722565 980__ $$aBIB
000722565 982__ $$aEbook
000722565 983__ $$aOnline
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