A Clinical Guide To Inherited Metabolic Diseases

Author : Carla E. M. Hollak,Robin Lachmann
Publisher : Oxford University Press
Page : 657 pages
File Size : 46,7 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 : 54,8 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 : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
Publisher : Springer Science & Business Media
Page : 386 pages
File Size : 48,8 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 : N. Blau,M. Duran,M.E. Blaskovics,K.M. Gibson
Publisher : Springer Science & Business Media
Page : 732 pages
File Size : 51,5 Mb
Release : 2012-12-06
Category : Science
ISBN : 9783642558788

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Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases by N. Blau,M. Duran,M.E. Blaskovics,K.M. Gibson Pdf

This 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 : Nenad Blau,Marinus Duran,K Michael Gibson,Carlo Dionisi Vici
Publisher : Springer
Page : 867 pages
File Size : 54,5 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 : Nenad Blau,Georg F. Hoffmann,J.V. Leonard,Joe T. R. Clarke
Publisher : Springer Science & Business Media
Page : 404 pages
File Size : 48,8 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 : Laurie E. Bernstein,Fran Rohr,Sandy van Calcar
Publisher : Springer Nature
Page : 415 pages
File Size : 48,5 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 : Nenad Blau,Carlo Dionisi Vici,Carlos R. Ferreira,Christine Vianey-Saban,Clara D. M. van Karnebeek
Publisher : Springer Nature
Page : 1514 pages
File Size : 50,8 Mb
Release : 2022-02-21
Category : Medical
ISBN : 9783030677275

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Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by Nenad Blau,Carlo Dionisi Vici,Carlos R. Ferreira,Christine Vianey-Saban,Clara D. M. van Karnebeek Pdf

This updated and enlarged second edition 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 clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com

Author : Acosta
Publisher : Jones & Bartlett Publishers
Page : 489 pages
File Size : 41,5 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 : E. Gilbert-Barness,L.A. Barness,P.M. Farrell
Publisher : IOS Press
Page : 960 pages
File Size : 50,7 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 : N. Blau,M. Duran,M. Blaskovics
Publisher : CRC Press
Page : 544 pages
File Size : 47,9 Mb
Release : 1998-09-04
Category : Medical
ISBN : 0412575604

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Physician's Guide to the Laboratory Diagnosis of Inherited Metabolic Diseases by N. Blau,M. Duran,M. Blaskovics Pdf

University of Zurich, Switzerland. Handbook of inherited metabolic diseases, for physicians, clinical chemists, biochemists, and pathologists. Discusses testing and treatment options of inborn errors of metabolism. Extensive tables and flowcharts. 51 contributors, 16 U.S.

Author : William Nyhan,Georg Hoffmann,Bruce Barshop,Aida Al-Aqeel
Publisher : CRC Press
Page : 889 pages
File Size : 53,8 Mb
Release : 2011-12-30
Category : Medical
ISBN : 9781444149487

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Atlas of Inherited Metabolic Diseases 3E by William Nyhan,Georg Hoffmann,Bruce Barshop,Aida Al-Aqeel 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 third edition of this highly regarded book, autho

Author : Johannes Zschocke,Georg F. Hoffmann
Publisher : Schattauer Verlag
Page : 188 pages
File Size : 53,6 Mb
Release : 2011
Category : Pediatrics
ISBN : 9783794528165

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Vademecum Metabolicum by Johannes Zschocke,Georg F. Hoffmann Pdf

Author : Patricia Jones,Khushbu Patel,Dinesh Rakheja
Publisher : Academic Press
Page : 220 pages
File Size : 44,9 Mb
Release : 2020-08-17
Category : Science
ISBN : 9780128169261

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A Quick Guide to Metabolic Disease Testing Interpretation by Patricia Jones,Khushbu Patel,Dinesh Rakheja Pdf

Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is an important factor and a skill that is gained through time and effort. A Quick Guide to Metabolic Disease Testing Interpretation, Second Edition, provides these example chromatographs demonstrating specific disease-related metabolites for the inborn error of metabolism diagnosed via this method. One or more representative chromatographs from each of the common disorders is presented, with the important compounds noted on the chromatographs. This is a must-have for laboratory and medical professionals who interpret testing for the diagnosis and monitoring of IEM. Includes pathway diagrams and representative compound scans of important diagnostic compounds Provides illustrative chromatographs from selected disorders to aid in diagnosing common inborn errors of metabolism Highlights brief descriptions of the etiology and clinical presentation of each presented disorder

Author : Jean-Marie Saudubray,Matthias R. Baumgartner,John H. Walter
Publisher : Springer
Page : 658 pages
File Size : 43,7 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.