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A01=Georg F Hoffmann
A01=William L Nyhan
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Age Group_Uncategorized
Author_Georg F Hoffmann
Author_William L Nyhan
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Atlas of Inherited Metabolic Diseases

English

By (author): Georg F Hoffmann William L Nyhan

In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to.

The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs.

Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.

Key Features

Fully updated to incorporate all new developments in the field

Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others

Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management

Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability

The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.

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Current price €167.43
Original price €183.99
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A01=Georg F HoffmannA01=William L NyhanAge Group_UncategorizedAuthor_Georg F HoffmannAuthor_William L Nyhanautomatic-updateCategory1=Non-FictionCategory=MBCategory=MFNCategory=MJGCategory=MJWCOP=United KingdomDelivery_Delivery within 10-20 working daysLanguage_EnglishPA=AvailablePrice_€100 and abovePS=Activesoftlaunch
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Product Details
  • Weight: 2880g
  • Dimensions: 216 x 280mm
  • Publication Date: 04 Aug 2020
  • Publisher: Taylor & Francis Ltd
  • Publication City/Country: United Kingdom
  • Language: English
  • ISBN13: 9781138196599

About Georg F HoffmannWilliam L Nyhan

William L. Nyhan MD PhD is Professor of Pediatrics and Founding Director of The William L. Nyhan Biochemical Genetics and Metabolomics Laboratory at the University of California San Diego.Georg F. Hoffmann MD is Professor of Pediatrics and Chairman of the University Childrens Hospital and Head of the Center of Rare Diseases at the University Clinic Heidelberg in Heidelberg Germany.Aida I. Al-Aqeel and Bruce A. Barshop have also provided contributions.

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