Nutrition Management Of Inherited Metabolic Diseases

Author : Laurie E. Bernstein,Fran Rohr,Sandy van Calcar
Publisher : Springer Nature
Page : 415 pages
File Size : 49,6 Mb
Release : 2022-06-14
Category : Medical
ISBN : 9783030945107

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Nutrition Management of Inherited Metabolic Diseases by Laurie E. Bernstein,Fran Rohr,Sandy van Calcar Pdf

This text presents a compilation of topics that have been taught at Metabolic University (MU), an interactive, didactic educational program that has trained over 600 metabolic dietitians/nutritionists, physicians, nurses and genetic counselors. This book was created in 2014 for the metabolic community. The 1st edition contains only subject matter covered at Metabolic University; therefore, it is not a comprehensive treatise on Inherited Metabolic Disorders (IMD) but rather a text on the most frequently encountered challenges in IMD nutrition. Each chapter in the book highlights principles of nutrition management, how to initiate a diet, and biomarkers to monitor the diet. Recognizing that there are variations in practice, this book addresses that the key to management lies in the understanding how the inactivity of an enzyme in a metabolic pathway determines which components of the diet must be restricted and which must be supplemented as well as the monitoring of appropriate biomarkers to make diet adjustments and ensure the goals of therapy are met The 2nd edition is an updated and more extensive version covering the nutrition management of IMD, and 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 also addressed. In addition, current medical management therapies is included.

Author : Acosta
Publisher : Jones & Bartlett Publishers
Page : 489 pages
File Size : 50,8 Mb
Release : 2010-10-22
Category : Health & Fitness
ISBN : 9781449617998

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Nutrition Management of Patients with Inherited Metabolic Disorders by Acosta Pdf

5 Stars! Doody's Book Review Written by the foremost nutritionists in the United States, each of whom has more than 15 years of clinical experience providing nutrition management of patients with an inherited metabolic disorder (IMD), Nutrition Management of Patients with Inherited Metabolic Disorders supplies information to enhance the knowledge and skills needed by nutritionists/dietitians and other health care professionals who provide services to patients with IMDs. Many disorders that are disastrous to patients have been diagnosed and managed by diet, improving neurological and physical outcomes. However, nutrition problems still occur, whether due to the quality of the medical foods, inadequate prescription by health care providers or poor diet adherence by the patient. This book describes these problems and helps medical food manufacturers, medical geneticists, nutritionists/dietitians, and other health care providers find alternative forms of nutrients that would provide optimal nutrition and health for the patients.

Author : Carla E. M. Hollak,Robin Lachmann
Publisher : Oxford University Press
Page : 657 pages
File Size : 48,5 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 : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
Publisher : Springer Science & Business Media
Page : 386 pages
File Size : 52,7 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 : E. Gilbert-Barness,L.A. Barness,P.M. Farrell
Publisher : IOS Press
Page : 960 pages
File Size : 49,7 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.

Author : Johannes Zschocke,Georg F. Hoffmann
Publisher : Schattauer Verlag
Page : 188 pages
File Size : 52,5 Mb
Release : 2011
Category : Pediatrics
ISBN : 9783794528165

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Vademecum Metabolicum by Johannes Zschocke,Georg F. Hoffmann Pdf

Author : Nenad Blau,Marinus Duran,K Michael Gibson,Carlo Dionisi Vici
Publisher : Springer
Page : 867 pages
File Size : 41,5 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 : Thomas Seyfried
Publisher : John Wiley & Sons
Page : 482 pages
File Size : 47,9 Mb
Release : 2012-05-18
Category : Science
ISBN : 9781118310304

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Cancer as a Metabolic Disease by Thomas Seyfried Pdf

The book addresses controversies related to the origins of cancer and provides solutions to cancer management and prevention. It expands upon Otto Warburg's well-known theory that all cancer is a disease of energy metabolism. However, Warburg did not link his theory to the "hallmarks of cancer" and thus his theory was discredited. This book aims to provide evidence, through case studies, that cancer is primarily a metabolic disease requring metabolic solutions for its management and prevention. Support for this position is derived from critical assessment of current cancer theories. Brain cancer case studies are presented as a proof of principle for metabolic solutions to disease management, but similarities are drawn to other types of cancer, including breast and colon, due to the same cellular mutations that they demonstrate.

Author : K. Tada,N.R.M. Buist,John Fernandes,Jean-Marie Saudubray,Georges van den Berghe
Publisher : Springer Science & Business Media
Page : 421 pages
File Size : 43,9 Mb
Release : 2013-03-14
Category : Medical
ISBN : 9783662031476

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Inborn Metabolic Diseases by K. Tada,N.R.M. Buist,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 : William L Nyhan,Georg F Hoffmann
Publisher : CRC Press
Page : 856 pages
File Size : 45,7 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 : D.N. Raine
Publisher : Springer Science & Business Media
Page : 309 pages
File Size : 53,8 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9789401161732

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Medico-Social Management of Inherited Metabolic Disease by D.N. Raine Pdf

The study of inherited metabolic disease became a subject of more than academic interest in 1953 when Bickel, Gerrard and Hickmans dis covered that the totally disabling consequences of phenylketonuria could be prevented if treatment was instituted in the first months of life. This required the widespread screening of all newborn babies and 7 years later this had been successfully achieved in the United King dom. The next 10 years was a period of consolidation: screening methods were improved and extended to include other disorders; treatment of phenylketonuria was vastly improved with the stimulus of the increasing numbers of patients being detected, and research into new forms of therapy for some of the other disorders being detected has been initiated. The success of this scheme is illustrated by the remarkable achievement reported by the Phenylketonuria Registry referred to in the present volume. But at what cost has this progress been made? It is unnecessary to discuss the financial cost for many of the developments would not have been started if their economic value in the system of health care had not been unequivocally established.

Author : William J. Marshall,S. K. Bangert
Publisher : Elsevier Health Sciences
Page : 997 pages
File Size : 41,8 Mb
Release : 2008-01-01
Category : Medical
ISBN : 9780443101861

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Clinical Biochemistry by William J. Marshall,S. K. Bangert Pdf

Now fully revised and updated, Clinical Biochemistry, third edition is essential reading for specialty trainees, particularly those preparing for postgraduate examinations. It is also an invaluable current reference for all established practitioners, including both medical and scientist clinical biochemists. Building on the success of previous editions, this leading textbook primarily focuses on clinical aspects of the subject, giving detailed coverage of all conditions where clinical biochemistry is used in diagnosis and management - including nutritional disorders, diabetes, inherited metabolic disease, metabolic bone disease, renal calculi and dyslipidaemias. The acquisition and interpretation of clinical biochemical data are also discussed in detail. Expanded sections on haematology and immunology for clinical biochemists provide a thorough understanding of both laboratory and clinical aspects New chapters are included on important evolving areas such as the metabolic response to stress, forensic aspects of clinical biochemistry and data quality management An extended editorial team - including three expert new additions - ensures accuracy of information and relevance to current curricula and clinical practice A superb new accompanying electronic version provides an enhanced learning experience and rapid reference anytime, anywhere! Elsevier ExpertConsult.com Enhanced eBooks for medical professionals Compatible with PC, Mac®, most mobile devices and eReaders, browse, search, and interact with this title - online and offline. Redeem your PIN at expertconsult.com today! Straightforward navigation and search across all Elsevier titles Seamless, real-time integration between devices Adjustable text size and brightness Notes and highlights sharing with other users through social media Interactive content

Author : Osama Naga
Publisher : Springer
Page : 614 pages
File Size : 42,5 Mb
Release : 2015-03-27
Category : Medical
ISBN : 9783319101156

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Pediatric Board Study Guide by Osama Naga Pdf

Covers the most frequently asked and tested points on the pediatric board exam. Each chapter offers a quick review of specific diseases and conditions clinicians need to know during the patient encounter. Easy-to-use and comprehensive, clinicians will find this guide to be the ideal final resource needed before taking the pediatric board exam.

Author : Joe T. R. Clarke
Publisher : Cambridge University Press
Page : 360 pages
File Size : 42,6 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 : Peter H. Hoeger,Veronica Kinsler,Albert C. Yan,Christine Bodemer,Margarita Larralde,David Luk,Vibhu Mendiratta,Diana Purvis
Publisher : John Wiley & Sons
Page : 2656 pages
File Size : 53,7 Mb
Release : 2019-12-04
Category : Medical
ISBN : 9781119142805

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Harper's Textbook of Pediatric Dermatology by Peter H. Hoeger,Veronica Kinsler,Albert C. Yan,Christine Bodemer,Margarita Larralde,David Luk,Vibhu Mendiratta,Diana Purvis Pdf

A consummate classic with a fresh approach to pediatric dermatology Children ́s skin is different. Maturation affects the epidermal barrier, the cutaneous microbiome, adnexal structures, vasculature, and transcutaneous absorption of drugs. The immature skin is more susceptible to pathogens and environmental disruption. Many genetic disorders are either present at birth or manifest early in childhood. Skin diseases thus present differently in children than in adults. Pediatric dermatology has seen significant advances over the last decade, particularly in the field of molecular genetics research, which has furthered our understanding of the pathogenesis of many skin diseases and the development of new approaches to treatment. This fourth edition of the Harper classic provides state-of-the-art information on all aspects of skin disease in children. It covers the diagnosis and treatment of all conditions - both common and rare - with a consistently evidence-based approach. Existing content has been refreshed and fully updated to reflect emerging thinking and to incorporate the latest in research and clinical data - especially at the genetic level. This new fourth edition includes: Greater focus on the genetics behind skin disease, including new genes/genodermatoses, progress in genetic analysis, and stem cell transplants Increased coverage of lasers and other technologies used to treat skin disease More summary tables, learning points, tables of differential diagnosis, and clinical algorithms for diagnosis and management Additional online features, including patient information links and multiple choice questions Harper's Textbook of Pediatric Dermatology delivers crucial clinical insights and up-to-date research information that spans the breadth of the field. As the most comprehensive reference book on this subject available, this revised fourth edition will support and guide the daily practice of both dermatologists and pediatricians across the world.