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020 _a9783642403378
_9978-3-642-40337-8
024 7 _a10.1007/978-3-642-40337-8
_2doi
035 _ato000544735
040 _aSpringer
_cSpringer
_dRU-ToGU
050 4 _aRC627.5-632
072 7 _aMFGM
_2bicssc
072 7 _aMED027000
_2bisacsh
082 0 4 _a616.39
_223
245 1 0 _aPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
_helectronic resource
_cedited by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici.
260 _aBerlin, Heidelberg :
_bSpringer Berlin Heidelberg :
_bImprint: Springer,
_c2014.
300 _aXLV, 867 p. 163 illus., 82 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
505 0 _aIntroductory Chapters -- Amino acids -- Organic acids -- Vitamins and neurotransmitter -- Energy metabolism -- Organelles -- Selected disorder -- Biochemical phenotypes of questionable clinical significance -- Profiles.
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.
650 0 _amedicine.
_9566220
650 0 _aHuman genetics.
_9566248
650 0 _aMedical laboratories.
_9304993
650 0 _aMetabolic diseases.
_9566257
650 0 _aBiochemistry.
_9299060
650 0 _aPediatrics.
_9303296
650 1 4 _aMedicine & Public Health.
_9566221
650 2 4 _aMetabolic Diseases.
_9566258
650 2 4 _aMedical Biochemistry.
_9299063
650 2 4 _aPediatrics.
_9303296
650 2 4 _aLaboratory Medicine.
_9304994
650 2 4 _aHuman Genetics.
_9566249
700 1 _aBlau, Nenad.
_eeditor.
_9320082
700 1 _aDuran, Marinus.
_eeditor.
_9452056
700 1 _aGibson, K Michael.
_eeditor.
_9357666
700 1 _aDionisi Vici, Carlo.
_eeditor.
_9452057
710 2 _aSpringerLink (Online service)
_9143950
773 0 _tSpringer eBooks
856 4 0 _uhttp://dx.doi.org/10.1007/978-3-642-40337-8
912 _aZDB-2-SME
999 _c402213