Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. ...
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Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. 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.
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Seller's Description:
Good++; Hardcover; Covers are still glossy with slightly "bumped" edge-corners (now straightened and fitted with clear corner protectors); Unblemished textblock edges; Ink stamp to the first and back endpapers; Text pages are clean & unmarked; Good binding with a straight spine; This book will be stored and delivered in a sturdy cardboard box with foam padding; Medium-Large Format (Quatro, 9.75Äù Äì 10.75Äù tall); Blue and yellow covers with title in white lettering; 1998, CRC Press; 544 pages; "Physician's Guide to the Laboratory Diagnosis of Inherited Metabolic Diseases, " by N. Blau, et al.