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Inborn Errors Of Carbohydrate Metabolism
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Book Synopsis Liver Disease in Children by : Frederick J. Suchy
Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2007-05-07 with total page 995 pages. Available in PDF, EPUB and Kindle. Book excerpt: Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.
Book Synopsis Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases by : Nenad Blau
Download or read book Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2006-01-16 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Oxford Textbook of Endocrinology and Diabetes by : John A.H. Wass
Download or read book Oxford Textbook of Endocrinology and Diabetes written by John A.H. Wass and published by Oxford University Press, USA. This book was released on 2011-07-28 with total page 2158 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now in its second edition, the Oxford Textbook of Endocrinology and Diabetes is a fully comprehensive, evidence-based, and highly-valued reference work combining basic science with clinical guidance, and providing first rate advice on diagnosis and treatment.
Book Synopsis Biomarkers in Inborn Errors of Metabolism by : Uttam Garg
Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Inborn Metabolic Diseases by : K. Tada
Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Vademecum Metabolicum by : Johannes Zschocke
Download or read book Vademecum Metabolicum written by Johannes Zschocke and published by Schattauer Verlag. This book was released on 2011 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Nutrition Management of Inherited Metabolic Diseases by : Laurie E. Bernstein
Download or read book Nutrition Management of Inherited Metabolic Diseases written by Laurie E. Bernstein and published by Springer. This book was released on 2015-06-03 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Principles of Perinatal-Neonatal Metabolism by : Richard M. Cowett
Download or read book Principles of Perinatal-Neonatal Metabolism written by Richard M. Cowett and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 792 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the last quarter century or so, specialization within obstetrics and gynecology, and pediatrics has resulted in the development of the disciplines of maternal-fetal medicine and neonatology, respectively. A primary focus of maternal-fetal medicine has been to understand the mechanism(s) of premature delivery and develop treatment modalities for improving the length of gestation. A primary focus of neonatology has been to under stand the causes of respiratory distress in the neonate. Success has resulted, not only in the lengthening of gestation, but an improved understanding of the causes and treatment of neonatal respiratory disease. With increasing success has come the necessity to under stand the metabolic principles of the parturient, the fetal/placenta unit, and the neonate. These principles are clearly very important from multiple aspects. Increased understand ing of metabolism of the pregnant woman would explain the aberrations occurring in normal and abnormal pregnancy and improve nutritional support for the parturient. A prime example of altered metabolism is the parturient with diabetes. Understanding metabolism ofthe fetal/placenta unit is necessary to increase the probability that the fetus will be born appropriate for size irrespective of the gestational age. The various compo nents of neonatal metabolism are important, not only for understanding the changes in physiology and biochemistry occurring in the developing neonate, but the principles by which nutritional support should be provided.
Book Synopsis Metabolism at a Glance by : J. G. Salway
Download or read book Metabolism at a Glance written by J. G. Salway and published by John Wiley & Sons. This book was released on 2017-02-06 with total page 147 pages. Available in PDF, EPUB and Kindle. Book excerpt: Metabolism at a Glance presents a concise, illustrated summary of metabolism in health and disease. This essential text is progressively appropriate for introductory through to advanced medical and biochemistry courses. It also provides a succinct review of inborn errors of metabolism, and reference for postgraduate medical practitioners and biomedical scientists who need a resource to quickly refresh their knowledge. Fully updated and extensively illustrated, this new edition of Metabolism at a Glance is now in full colour throughout, and includes new coverage of sports biochemistry; the metabolism of lipids, carbohydrates and cholesterol; glyceroneogenesis, α-oxidation and ω-oxidation of fatty acids. It also features the overlooked “Krebs Uric Acid Cycle”. Metabolism at a Glance offers an accessible introduction to metabolism, and is ideal as a revision aid for students preparing for undergraduate and USMLE Step 1 exams.
Book Synopsis The Eye in Pediatric Systemic Disease by : Alex V. Levin
Download or read book The Eye in Pediatric Systemic Disease written by Alex V. Levin and published by Springer. This book was released on 2017-06-20 with total page 836 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the first of its kind to describe ocular manifestations of systemic diseases in the pediatric population. Written and edited by experts in areas of pediatric ophthalmology and genetics, this new text covers a multitude of topics in a comprehensive and cataloged fashion. The Eye in Pediatric Systemic Disease is designed as an in-depth and up-to-date reference work that is heavily referenced, thus allowing the reader ready access to the international supporting literature. Everything from ocular manifestations of hematologic disease, child abuse, psychiatric diseases, renal disorders, and vitamin disorders are covered, allowing readers to know what to look for in the eyes of children with a given systemic disorder. The Eye in Pediatric Systemic Disease is written in language that is accessible to ophthalmologists and pediatricians, as well as allied health care professionals.
Book Synopsis Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases by : N. Blau
Download or read book Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Progressive Brain Disorders in Childhood by : Juan M. Pascual
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Book Synopsis Clinical Biochemistry and Metabolic Medicine by : Martin Crook
Download or read book Clinical Biochemistry and Metabolic Medicine written by Martin Crook and published by CRC Press. This book was released on 2013-03-21 with total page 441 pages. Available in PDF, EPUB and Kindle. Book excerpt: Whether you are following a problem-based, an integrated, or a more traditional medical course, clinical biochemistry is often viewed as one of the more challenging subjects to grasp. What you need is a single resource that not only explains the biochemical underpinnings of metabolic medicine, but also integrates laboratory findings with clinical p
Book Synopsis Disorders of Voluntary Muscle by : George Karpati
Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau
Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Pathology of Heart Disease in the Fetus, Infant and Child by : Michael T. Ashworth
Download or read book Pathology of Heart Disease in the Fetus, Infant and Child written by Michael T. Ashworth and published by Cambridge University Press. This book was released on 2019-08-22 with total page 361 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clearly presents the pathology of heart disease from fetus to adolescence, integrating histology and macroscopy with effects of treatment.
