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008 | 160915s2014 gw | s |||| 0|eng d | ||
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 | |
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_aMFGM _2bicssc |
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_aMED027000 _2bisacsh |
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_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 |