Georg F. Hoffmann's Books

Atlas of Inherited Metabolic Diseases

By: William L Nyhan,Georg F Hoffmann

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Atlas of Inherited Metabolic Diseases

By: William L Nyhan,Georg F Hoffmann

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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Page Count

1779

Publisher

CRC Press

Published Date

ISBN 10

1138196622

ISBN 13

9781138196629

Pediatric Endocrinology and Inborn Errors of Metabolism

By: Kyriakie Sarafoglou,Georg F. Hoffmann,Karl S. Roth

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Pediatric Endocrinology and Inborn Errors of Metabolism

By: Kyriakie Sarafoglou,Georg F. Hoffmann,Karl S. Roth

Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doody's Core Title for 2011! New England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership."--New England Journal of Medicine 4 STAR DOODY'S REVIEW! "The book covers various pathophysiologic aspects of each endocrine organ and its interaction with other endocrine and nonendocrine systems. Disorders of thyroid and adrenal glands, pituitary, reproductive organs, and endocrine neoplasia are extensively covered. Most large groups of metabolic diseases are reviewed as well. Concise, pertinent information is provided on mitochondrial and fatty-acid oxidation, urea cycle and glycogen storage disorders, as well as organic acidurias and amino acidopathies. The most useful and user-friendly areas are the 1-to-2-page "at-a-glance" sections in each chapter which provide concise yet pertinent information about the disorders within a particular group of endocrine disturbances or IEM. This is a well written book and the multiple visual aids greatly assist in comprehension and memorization of the material...I strongly recommend this book without reservation." -- Doody's In one practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights you need to confidently diagnose and manage pediatric patients. This full-color resource guides you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Features: Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process At-a-Glance feature beginning each disease-based chapter summarizes all the clinical information you need to differentiate between disorder sub-types in one easy-to-find place All-inclusive coverage encompasses the full spectrum of critical topics Emergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disorders Chapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testing Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines

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Page Count

966

Publisher

McGraw Hill Professional

Published Date

ISBN 10

0071811575

ISBN 13

9780071811576

Vademecum Metabolicum

Manual of Metabolic Paediatrics

By: Johannes Zschocke,Georg Friedrich Hoffmann

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Vademecum Metabolicum

Manual of Metabolic Paediatrics

By: Johannes Zschocke,Georg Friedrich Hoffmann

Inborn errors of metabolism represent a special challenge in general and paediatric practice. The development and prognosis of the affected child may depend on rapid and effective treatment, but the large number of genetic disorders in various biochemical pathways makes it difficult to be familiar with diagnostic strategies and specific therapies. With this in mind, the Vademecum Metabolicum aims to provide practical guidance to the clinician. The second edition has been extensively updated and expanded. The first section summarises the differential diagnosis and management strategies for a large number of clinical situations, and describes indications and requirements for all relevant metabolic investigations. The second section explains the metabolic pathways in detail. Clinical characteristics, diagnostic approaches and the basis of therapy are discussed for more than 300 individual disorders. Foreword by James V. Leonard, London

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Page Count

180

Publisher

Schattauer Verlag

Published Date

ISBN 10

3794523857

ISBN 13

9783794523856

Atlas of Inherited Metabolic Diseases 3E

By: William Nyhan,Georg Hoffmann,Bruce Barshop,Aida Al-Aqeel

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Atlas of Inherited Metabolic Diseases 3E

By: William Nyhan,Georg Hoffmann,Bruce Barshop,Aida Al-Aqeel

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889

Publisher

CRC Press

Published Date

ISBN 10

1444149482

ISBN 13

9781444149487

Pediatric Neurology Part III

Chapter 181. Defects in amino acid catabolism and the urea cycle

By: Georg F. Hoffmann,Stefan Kölker

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Pediatric Neurology Part III

Chapter 181. Defects in amino acid catabolism and the urea cycle

By: Georg F. Hoffmann,Stefan Kölker

Symptoms in patients with defects in amino acid catabolism and the urea cycle usually develop because of intoxication of accumulating metabolites. The cumulative prevalence of these disorders is considerable (at least>1:2000 newborns). Timely and correct intervention during the initial presentation and during later episodes is most important. Evaluation of metabolic parameters should be performed on an emergency basis in every patient with symptoms of unexplained metabolic crisis, intoxication, and/or unexplained encephalopathy. A substantial number of patients develop acute encephalopathy or chronic and fluctuating progressive neurological disease. The so-called cerebral organic acid disorders present with (progressive) neurological symptoms: ataxia, myoclonus, extrapyramidal symptoms, and “metabolic stroke.” Important diagnostic clues, such as white matter abnormalities, cortical or cerebellar atrophy, and injury of the basal ganglia can be derived from cranial magnetic resonance imaging (MRI). Long-term neurological disease is common, particularly in untreated patients, and the manifestations are varied, the most frequent being (1) mental defect, (2) epilepsy, and (3) movement disorders. Successful treatment strategies are becoming increasingly available. They mostly require an experienced interdisciplinary team including a neuropediatrician and/or later on a neurologist.

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Elsevier Inc. Chapters

Published Date

ISBN 10

0128084472

ISBN 13

9780128084472

Book's by Georg F. Hoffmann

Atlas of Inherited Metabolic Diseases

Atlas of Inherited Metabolic Diseases

Pediatric Endocrinology and Inborn Errors of Metabolism

Pediatric Endocrinology and Inborn Errors of Metabolism

Vademecum Metabolicum

Vademecum Metabolicum

Atlas of Inherited Metabolic Diseases 3E

Atlas of Inherited Metabolic Diseases 3E

Pediatric Neurology Part III

Pediatric Neurology Part III

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