Inborn Metabolic Diseases
DOWNLOAD
Download Inborn Metabolic Diseases PDF/ePub or read online books in Mobi eBooks. Click Download or Read Online button to get Inborn Metabolic Diseases book now. This website allows unlimited access to, at the time of writing, more than 1.5 million titles, including hundreds of thousands of titles in various foreign languages. If the content not found or just blank you must refresh this page
Inborn Metabolic Diseases
DOWNLOAD
Author : Jean-Marie Saudubray
language : en
Publisher: Springer
Release Date : 2016-11-10
Inborn Metabolic Diseases written by Jean-Marie Saudubray and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-11-10 with Medical categories.
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.
Inborn Metabolic Diseases
DOWNLOAD
Author : John Fernandes
language : en
Publisher: Springer
Release Date : 1995
Inborn Metabolic Diseases written by John Fernandes and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995 with Medical categories.
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.
Inborn Metabolic Diseases
DOWNLOAD
Author : Jean-Marie Saudubray
language : en
Publisher: Springer Science & Business Media
Release Date : 2011-11-16
Inborn Metabolic Diseases written by Jean-Marie Saudubray and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-11-16 with Medical categories.
Being up to Date: Status Quo and Trends of Treatment For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated. What ́s new - Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations - Numerous updates on diagnostic procedures and treatment - Newly discovered disorders. As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.
Inborn Metabolic Diseases
DOWNLOAD
Author : J. Fernandes
language : en
Publisher:
Release Date : 2002
Inborn Metabolic Diseases written by J. Fernandes and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002 with categories.
Inborn Metabolic Diseases
DOWNLOAD
Author : John Fernandes
language : en
Publisher:
Release Date : 2014-01-15
Inborn Metabolic Diseases written by John Fernandes and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-01-15 with categories.
Inherited Metabolic Diseases
DOWNLOAD
Author : Georg F. Hoffmann
language : en
Publisher: Springer Science & Business Media
Release Date : 2009-11-21
Inherited Metabolic Diseases written by Georg F. Hoffmann and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-11-21 with Medical categories.
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.
Vademecum Metabolicum
DOWNLOAD
Author : Johannes Zschocke
language : en
Publisher: Schattauer Verlag
Release Date : 2011
Vademecum Metabolicum written by Johannes Zschocke and has been published by Schattauer Verlag this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011 with Pediatrics categories.
Inherited Metabolic Disease In Adults
DOWNLOAD
Author : Carla E. M. Hollak
language : en
Publisher: Oxford University Press
Release Date : 2016
Inherited Metabolic Disease In Adults written by Carla E. M. Hollak and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016 with Medical categories.
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.
A Clinical Guide To Inherited Metabolic Diseases
DOWNLOAD
Author : Joe T. R. Clarke
language : en
Publisher: Cambridge University Press
Release Date : 2005-12-08
A Clinical Guide To Inherited Metabolic Diseases written by Joe T. R. Clarke and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005-12-08 with Medical categories.
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.
Inborn Errors Of Metabolism
DOWNLOAD
Author : Brendan Lee
language : en
Publisher: Oxford Monographs on Medical G
Release Date : 2014-10-13
Inborn Errors Of Metabolism written by Brendan Lee and has been published by Oxford Monographs on Medical G this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-10-13 with Medical categories.
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.