Inborn Metabolic Diseases

Author : Jean-Marie Saudubray,Matthias R. Baumgartner,John H. Walter
Publisher : Springer
Page : 658 pages
File Size : 44,8 Mb
Release : 2016-11-10
Category : Medical
ISBN : 9783662497715

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Inborn Metabolic Diseases by Jean-Marie Saudubray,Matthias R. Baumgartner,John H. Walter Pdf

This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.

Author : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
Publisher : Springer Science & Business Media
Page : 380 pages
File Size : 52,9 Mb
Release : 2009-11-21
Category : Medical
ISBN : 9783540747239

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Inherited Metabolic Diseases by Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan Pdf

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. 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.

Author : Carla E. M. Hollak,Robin Lachmann
Publisher : Oxford University Press
Page : 657 pages
File Size : 55,7 Mb
Release : 2016
Category : Medical
ISBN : 9780199972135

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Inherited Metabolic Disease in Adults by Carla E. M. Hollak,Robin Lachmann Pdf

As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear 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.

Author : Joe T. R. Clarke
Publisher : Cambridge University Press
Page : 360 pages
File Size : 52,8 Mb
Release : 2005-12-08
Category : Medical
ISBN : 9781139447188

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A Clinical Guide to Inherited Metabolic Diseases by Joe T. R. Clarke Pdf

This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. 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. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.

Author : Brendan Lee,Fernando Scaglia
Publisher : Oxford Monographs on Medical G
Page : 393 pages
File Size : 53,6 Mb
Release : 2014-10-13
Category : Medical
ISBN : 9780199797585

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Inborn Errors of Metabolism by Brendan Lee,Fernando Scaglia Pdf

This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.

Author : Nenad Blau,Georg F. Hoffmann,J.V. Leonard,Joe T. R. Clarke
Publisher : Springer Science & Business Media
Page : 404 pages
File Size : 55,5 Mb
Release : 2006-01-16
Category : Medical
ISBN : 9783540289623

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Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases by Nenad Blau,Georg F. Hoffmann,J.V. Leonard,Joe T. R. Clarke Pdf

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.

Author : Juerg Hodler,Rahel A. Kubik-Huch,Gustav K. von Schulthess
Publisher : Springer Nature
Page : 252 pages
File Size : 47,5 Mb
Release : 2020-02-14
Category : Medical
ISBN : 9783030384906

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Diseases of the Brain, Head and Neck, Spine 2020–2023 by Juerg Hodler,Rahel A. Kubik-Huch,Gustav K. von Schulthess Pdf

This open access book offers an essential overview of brain, head and neck, and spine imaging. Over the last few years, there have been considerable advances in this area, driven by both clinical and technological developments. Written by leading international experts and teachers, the chapters are disease-oriented and cover all relevant imaging modalities, with a focus on magnetic resonance imaging and computed tomography. The book also includes a synopsis of pediatric imaging. IDKD books are rewritten (not merely updated) every four years, which means they offer a comprehensive review of the state-of-the-art in imaging. The book is clearly structured and features learning objectives, abstracts, subheadings, tables and take-home points, supported by design elements to help readers navigate the text. It will particularly appeal to general radiologists, radiology residents, and interventional radiologists who want to update their diagnostic expertise, as well as clinicians from other specialties who are interested in imaging for their patient care.

Author : Nenad Blau,Marinus Duran,K Michael Gibson,Carlo Dionisi Vici
Publisher : Springer
Page : 880 pages
File Size : 43,9 Mb
Release : 2014-07-08
Category : Medical
ISBN : 9783642403378

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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by Nenad Blau,Marinus Duran,K Michael Gibson,Carlo Dionisi Vici Pdf

This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

Author : John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
Publisher : Springer
Page : 472 pages
File Size : 41,9 Mb
Release : 1995
Category : Medical
ISBN : UOM:39015034417470

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Inborn Metabolic Diseases by John Fernandes,Jean-Marie Saudubray,Georges van den Berghe Pdf

Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

Author : Johannes Zschocke,Georg F. Hoffmann
Publisher : Schattauer Verlag
Page : 188 pages
File Size : 46,5 Mb
Release : 2011
Category : Pediatrics
ISBN : 9783794528165

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Vademecum Metabolicum by Johannes Zschocke,Georg F. Hoffmann Pdf

Author : Uttam Garg,Laurie D. Smith
Publisher : Elsevier
Page : 476 pages
File Size : 41,7 Mb
Release : 2017-06-07
Category : Medical
ISBN : 9780128029183

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Biomarkers in Inborn Errors of Metabolism by Uttam Garg,Laurie D. Smith Pdf

Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism Offers guidance on how to distinguish acquired causes from inborn errors of metabolism

Author : William L Nyhan,Georg F Hoffmann
Publisher : CRC Press
Page : 871 pages
File Size : 55,7 Mb
Release : 2020-07-14
Category : Medical
ISBN : 9781138196605

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Atlas of Inherited Metabolic Diseases by William L Nyhan,Georg F Hoffmann Pdf

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.

Author : Laurie E. Bernstein,Fran Rohr,Joanna R. Helm
Publisher : Springer
Page : 377 pages
File Size : 45,9 Mb
Release : 2015-06-03
Category : Medical
ISBN : 9783319146218

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Nutrition Management of Inherited Metabolic Diseases by Laurie E. Bernstein,Fran Rohr,Joanna R. Helm Pdf

This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.

Author : J. Fernandes
Publisher : Unknown
Page : 467 pages
File Size : 50,5 Mb
Release : 2002
Category : Electronic
ISBN : OCLC:1041801748

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Inborn Metabolic Diseases by J. Fernandes Pdf

Author : E. Gilbert-Barness,L.A. Barness,P.M. Farrell
Publisher : IOS Press
Page : 960 pages
File Size : 49,9 Mb
Release : 2017-01-06
Category : MEDICAL
ISBN : 9781614997184

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Metabolic Diseases by E. Gilbert-Barness,L.A. Barness,P.M. Farrell Pdf

The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.