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Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
Published: 2001
Total Pages: 6338
ISBN-13: 9780071363198
DOWNLOAD EBOOKPresents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author: Charles R. Scriver
Publisher:
Published: 1989
Total Pages: 1666
ISBN-13: 9780070607286
DOWNLOAD EBOOKAuthor: Debra G.B. Leonard
Publisher: Springer Science & Business Media
Published: 2007-11-25
Total Pages: 589
ISBN-13: 0387332278
DOWNLOAD EBOOKThis authoritative textbook embodies the current standard in molecular testing for practicing pathologists, and residents and fellows in training. The text is organized into eight sections: genetics, inherited cancers, infectious disease, neoplastic hematopathology, solid tumors, HLA typing, identity testing, and laboratory management. Discussion of each diagnostic test includes its clinical significance, available assays, quality control and lab issues, interpretation, and reasons for testing. Coverage extends to HIV, hepatitis, developmental disorders, bioterrorism, warfare organisms, lymphomas, breast cancer and melanoma, forensics, parentage, and much more. Includes 189 illustrations, 45 in full-color. This textbook is a classic in the making and a must-have reference.
Author: Edward C.C. Wong
Publisher: Academic Press
Published: 2021-05-13
Total Pages: 1172
ISBN-13: 0128179635
DOWNLOAD EBOOKBiochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. - Provides a fully-updated resource with more color illustrations - Focuses on the biochemical and molecular basis of disease as well as the analytical techniques - Defines important differences in the pathophysiology of diseases, comparing childhood with adult
Author: N. Blau
Publisher: Springer Science & Business Media
Published: 2012-12-06
Total Pages: 732
ISBN-13: 364255878X
DOWNLOAD EBOOKThis 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. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been 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 three indices to make the book as user-friendly as possible.
Author:
Publisher:
Published: 2001
Total Pages: 1306
ISBN-13:
DOWNLOAD EBOOKAuthor: David N. Cooper
Publisher: Taylor & Francis
Published: 1995
Total Pages: 412
ISBN-13: 9781859960554
DOWNLOAD EBOOKWithin the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
Author: William B. Coleman
Publisher: Academic Press
Published: 2017-11-09
Total Pages: 805
ISBN-13: 0128027878
DOWNLOAD EBOOKAs the molecular basis of human disease becomes better characterized, and the implications for understanding the molecular basis of disease becomes realized through improved diagnostics and treatment, Molecular Pathology, Second Edition stands out as the most comprehensive textbook where molecular mechanisms represent the focus. It is uniquely concerned with the molecular basis of major human diseases and disease processes, presented in the context of traditional pathology, with implications for translational molecular medicine. The Second Edition of Molecular Pathology has been thoroughly updated to reflect seven years of exponential changes in the fields of genetics, molecular, and cell biology which molecular pathology translates in the practice of molecular medicine. The textbook is intended to serve as a multi-use textbook that would be appropriate as a classroom teaching tool for biomedical graduate students, medical students, allied health students, and others (such as advanced undergraduates). Further, this textbook will be valuable for pathology residents and other postdoctoral fellows that desire to advance their understanding of molecular mechanisms of disease beyond what they learned in medical/graduate school. In addition, this textbook is useful as a reference book for practicing basic scientists and physician scientists that perform disease-related basic science and translational research, who require a ready information resource on the molecular basis of various human diseases and disease states. - Explores the principles and practice of molecular pathology: molecular pathogenesis, molecular mechanisms of disease, and how the molecular pathogenesis of disease parallels the evolution of the disease - Explains the practice of "molecular medicine and the translational aspects of molecular pathology - Teaches from the perspective of "integrative systems biology - Enhanced digital version included with purchase
Author: Barton Childs
Publisher: JHU Press
Published: 2003-09-15
Total Pages: 352
ISBN-13: 9780801874420
DOWNLOAD EBOOKChilds thus provides a conceptual framework within which to teach and practice a humane medicine.
Author: Michael F. Murray (Physician)
Publisher: McGraw Hill Professional
Published: 2014
Total Pages: 960
ISBN-13: 0071622446
DOWNLOAD EBOOKThe first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.
