@article{722565,
      recid = {722565},
      author = {Blau, N. and Duran, Martinus, and Gibson, K. Michael, and  Dionisi-Vici, Carlo,},
      title = {Physician's guide to the diagnosis, treatment, and  follow-up of inherited metabolic diseases [electronic  resource] /},
      pages = {1 online resource.},
      abstract = {This 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.},
      url = {http://library.usi.edu/record/722565},
      doi = {https://doi.org/10.1007/978-3-642-40337-8},
}