@article{777264,
      recid = {777264},
      author = {Hoffmann, Georg F. and Zschocke, Johannes, and Nyhan,  William L.,},
      title = {Inherited metabolic diseases : a clinical approach /},
      pages = {1 online resource (xviii, 605 pages) :},
      note = {Revised edition of: Inherited metabolic diseases : a  clinical approach / edited by Georg F. Hoffmann, Johannes  Zschocke, William L. Nyhan. ©2010.},
      abstract = {"This book focuses on clinical presentations that may be  caused by inherited metabolic diseases. Its symptom- and  system-based approach will help clinicians with and without  detailed knowledge of human biochemistry in all specialties  to reach a correct diagnosis and institute the optimal  treatment program. The book summarizes the central elements  of inherited metabolic diseases and describes clearly how  to carry out an efficient yet complete diagnostic work-up,  thereby guiding the clinician from the presenting symptoms  and signs through to effective initial management. After an  introduction to the different disorders, the book explains  when to consider an inborn metabolic error and which  initial tests to order. Core aspects such as structured  communication, guidelines, transition, pregnancy, maternal  care and how to respond to various medical emergencies are  covered. Therapeutic concepts such as dietary treatment are  delineated and practical advice provided on the quite  different treatment approaches required for individual  diseases. An extensive section structured according to  organ systems outlines the correct approach in the context  of specific symptoms and signs. The value of each of the  potential investigations is explained, with precise advice  on the interpretation of results. The inclusion of  algorithms, tables, lists, and charts facilitates rapid  decision making and information retrieval, and the  appendices include a helpful guide to differential  diagnosis based on clinical and biochemical phenotypes.  This new updated edition of Inherited Metabolic Diseases  will be an invaluable aid for the busy clinician and an  excellent quick reference for metabolic and genetic  specialists"--Publisher's description.},
      url = {http://library.usi.edu/record/777264},
      doi = {https://doi.org/10.1007/978-3-662-49410-3},
}