This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.
The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases.
This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data.
It is the first book to give aclear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Blau N, Duran M, Gibson KM, Dionisi Vici C (eds) (2014) Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Springer, Berlin Detailed collation of clinical and laboratory findings in individual ...
It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation.
Vademecum Metabolicum: Diagnosis and Treatment of Inborn Errors of Metabolism
This text presents a compilation of topics that have been taught at Metabolic University (MU), an interactive, didactic educational program that has trained over 600 metabolic dietitians/nutritionists, physicians, nurses and genetic ...
The book provides an introduction to the fundamentals of amino acids and proteins as well as the composition of food. It then delves into the molecular biology of the cell and genetic machinery and its function.
For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
The book addresses every problem encountered in the intensive care unit and covers surgical critical care more thoroughly than any other text.