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010   $a3-642-40337-9
024 7 $a10.1007/978-3-642-40337-8
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035   $a(EBL)1783192
035   $a(OCoLC)904404217
035   $a(SSID)ssj0001187428
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035   $a(PQKBTitleCode)TC0001187428
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035   $a(MiAaPQ)EBC1783192
035   $a(DE-He213)978-3-642-40337-8
035   $a(PPN)177821108
035   $a(EXLCZ)993710000000093940
100   $a20140307d2014      u|         0
101 0 $aeng
135   $aur|n|---|||||
181   $ctxt
182   $cc
183   $acr
200 10$aPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases /$fedited by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici
205   $a1st ed. 2014.
210  1$aBerlin, Heidelberg :$cSpringer Berlin Heidelberg :$cImprint: Springer,$d2014.
215   $a1 online resource (880 p.)
300   $aDescription based upon print version of record.
311   $a3-642-40336-0 
320   $aIncludes bibliographical references and indexes.
327   $aIntroductory Chapters -- Amino acids -- Organic acids -- Vitamins and neurotransmitter -- Energy metabolism -- Organelles -- Selected disorder -- Biochemical phenotypes of questionable clinical significance -- Profiles.
330   $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.
606   $aMetabolic diseases
606   $aMedical biochemistry
606   $aPediatrics
606   $aLaboratory medicine
606   $aHuman genetics
606   $aMetabolic Diseases$3https://scigraph.springernature.com/ontologies/product-market-codes/H33118
606   $aMedical Biochemistry$3https://scigraph.springernature.com/ontologies/product-market-codes/H35005
606   $aPediatrics$3https://scigraph.springernature.com/ontologies/product-market-codes/H49006
606   $aLaboratory Medicine$3https://scigraph.springernature.com/ontologies/product-market-codes/B15007
606   $aHuman Genetics$3https://scigraph.springernature.com/ontologies/product-market-codes/B12008
615  0$aMetabolic diseases.
615  0$aMedical biochemistry.
615  0$aPediatrics.
615  0$aLaboratory medicine.
615  0$aHuman genetics.
615 14$aMetabolic Diseases.
615 24$aMedical Biochemistry.
615 24$aPediatrics.
615 24$aLaboratory Medicine.
615 24$aHuman Genetics.
676   $a599935
676   $a610
676   $a610724
676   $a611.01816
702   $aBlau$b Nenad$4edt$4http://id.loc.gov/vocabulary/relators/edt
702   $aDuran$b Marinus$4edt$4http://id.loc.gov/vocabulary/relators/edt
702   $aGibson$b K Michael$4edt$4http://id.loc.gov/vocabulary/relators/edt
702   $aDionisi Vici$b Carlo$4edt$4http://id.loc.gov/vocabulary/relators/edt
906   $aBOOK
912   $a9910300081103321
996   $aPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases$92784790
997   $aUNINA