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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com
Krankheit und Biographie
Wirksame Medikamente, medizinisch-technische Entwicklungen und eine höhere Lebe- erwartung – diese Errungenschaften unserer Zivilisation sind daran beteiligt, dass ch- nische Krankheit und ein häufig über Jahrzehnte währendes Leben mit der Erkrankung zunehmend mehr Menschen über einen längeren Zeitraum hinweg betreffen. Die Frage nach der Bewältigung einer dauerhaften Erkrankung besitzt dadurch eine große persönliche und gesellschaftliche Relevanz. Eine Krankheit kann auf verschiedene Weise in das bisherige Leben einbrechen und den zukünftigen Lebensverlauf beeinflussen. Bisherige und zukünftige Lebensentwürfe und Sinngebungen können dabei zur Disposition stehen. Der Alltag mi...
JIMD Reports - Case and Research Reports, 2012/1
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
JIMD Reports - Case and Research Reports, 2012/3
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
JIMD Reports - Case and Research Reports, 2011/1
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
JIMD Reports - Case and Research Reports, 2012/2
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Transforming Bodies
At the turn of the twenty-first century, American media abound with images and narratives of bodily transformations. At the crossroads of American, cultural, literary, media, gender, queer, disability and governmentality studies, the book presents a timely intervention into critical debates on body transformations and contemporary makeover culture.
JIMD Reports - Case and Research Reports, 2011/3
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
