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Studies On The Metabolism Of Branched Chain Alpha Keto Acids And Their Relation To Maple Syrup Urine Disease
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Book Synopsis Studies on the Metabolism of Branched-chain Alpha Keto Acids and Their Relation to Maple Syrup Urine Disease by : Robert Fiser
Download or read book Studies on the Metabolism of Branched-chain Alpha Keto Acids and Their Relation to Maple Syrup Urine Disease written by Robert Fiser and published by . This book was released on 1966 with total page 68 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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.
Author :Charles R. Scriver Publisher :New York ; Montreal : McGraw-Hill ISBN 13 :9780071363198 Total Pages :6338 pages Book Rating :4.3/5 (631 download)
Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver
Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Book Synopsis Branched Chain Amino Acids in Clinical Nutrition by : Rajkumar Rajendram
Download or read book Branched Chain Amino Acids in Clinical Nutrition written by Rajkumar Rajendram and published by Springer. This book was released on 2014-11-14 with total page 287 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the first volume in a 2-volume compendium that is the go-to source for both research- and practice-oriented information on the importance of branched chain amino acids in maintaining the nutritional status and overall health of individuals, especially those with certain disease conditions. Over 150 well recognized and respected contributors have come together to compile these up-to-date and well-referenced works. The volumes will serve the reader as the benchmarks in this complex area of interrelationships between dietary protein intakes and individual amino acid supplementation, the unique role of the branched chain amino acids in the synthesis of brain neurotransmitters, collagen formation, insulin and glucose modulation and the functioning of all organ systems that are involved in the maintenance of the body’s metabolic integrity. Moreover, the physiological, genetic and pathological interactions between plasma levels of branched chain amino acids and aromatic amino acids are clearly delineated so that students as well as practitioners can better understand the complexities of these interactions. Branched Chain Amino Acids in Clinical Nutrition: Volume 1 covers basic processes at the cellular level, inherited defects in branched chain amino acid metabolism, and experimental models of growth and disease states.
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.
Author :National Organization for Rare Disorders Publisher :Lippincott Williams & Wilkins ISBN 13 :9780781730631 Total Pages :982 pages Book Rating :4.7/5 (36 download)
Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Author :Mohammad Ali El-Darouti Publisher :Springer Science & Business Media ISBN 13 :1447142497 Total Pages :711 pages Book Rating :4.4/5 (471 download)
Book Synopsis Challenging Cases in Dermatology by : Mohammad Ali El-Darouti
Download or read book Challenging Cases in Dermatology written by Mohammad Ali El-Darouti and published by Springer Science & Business Media. This book was released on 2013-02-15 with total page 711 pages. Available in PDF, EPUB and Kindle. Book excerpt: The cases presented in this book will guide the reader through the process of making a diagnosis based on logical thinking. The book provides a wealth of knowledge regarding diagnostic approaches and pearls of wisdom. In addition to unusual presentations of common diseases, it includes discussions about rare diseases, complex cases, surprising diagnoses, therapeutic challenges and other important features. Becoming acquainted with such unusual cases will provide the dermatologist with increased knowledge, a wider perspective, and innovative techniques that can be used to solve diagnostic dilemmas. Readers will improve their way of thinking and data analysis, and will be able to improve differential diagnoses. This book provides the unique feature of a strategic way of thinking while discussing each case, in order to reach a diagnosis. The text includes comparisons of each case to other similar cases, pointing out the distinguishing features of conditions under consideration.
Book Synopsis Alpha-Keto Acid Dehydrogenase Complexes by : M.S. Patel
Download or read book Alpha-Keto Acid Dehydrogenase Complexes written by M.S. Patel and published by Birkhäuser. This book was released on 2012-12-06 with total page 321 pages. Available in PDF, EPUB and Kindle. Book excerpt: Found in all organisms, the alpha-keto acid dehydrogenase complexes have central roles in cellular metabolism and are major sites of regulation. The understanding of the organization, function and regulation of these quintessential multienzyme complexes has been greatly advanced by studies employing molecular biology and biophysical techniques. Although these enzyme systems have some features in common, their diversity in fulfilling unique organism - or tissue - specific roles is truly amazing. These systems have medical importance in areas ranging from defects in regulation (linked to diabetes, heart disease, obesity, nutrition defects), to inherited diseases (inborn errors, maple syrup urine disease) to acquired immune diseases (primary biliary cirrhosis). This book brings together wide-ranging recent findings on the structure(function relationships, gene regulation, and genetic defects of the alpha-keto acid dehydrogenase complexes, namely the pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase and the branched-chain alpha-keto acid dehydrogenase complexes. A wide variety of experimental approaches together with new results presented in this book should serve as a resource for beginning to established investigators in the field as well as scientists who are interested in mitochondria, dehydrogenases, kinases, phosphatases, lipoic acid, thiamine pyrophosphate, and enzyme complexes.
Book Synopsis Branched-chain Amino Acids by : Robert Allison Harris
Download or read book Branched-chain Amino Acids written by Robert Allison Harris and published by Academic Press. This book was released on 2000 with total page 587 pages. Available in PDF, EPUB and Kindle. Book excerpt: Volume 324 of Methods in Enzymology supplements Volume 166. It includes genetic information (cloning, gene expression) and information on human genetic diseases not available when Volume 166 was published.
Book Synopsis Organic Acids in Man by : R. Chalmers
Download or read book Organic Acids in Man written by R. Chalmers and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 531 pages. Available in PDF, EPUB and Kindle. Book excerpt: The writing of this book was prompted by the need for a comprehensive of current data on organic acids suitable for both newcomers and collection established researchers in this field. The only previous text of the kind was the excellent review by Nordmann and Nordmann (1961), and at that time the main method of analysis was paper chromatography with liquid chromatography being used in a limited way. Only three diseases in which organic acids accumulate were known (primary hyperoxaluria, phenylketonuria and alcaptonuria). Since then, with the development of gas chromatography and mass spectrometry, and the further development ofliquid chromatography, knowledge concerning the nature of the organic acids in physiological fluids has been greatly extended. At the same time, the number of organic acidurias has increased dramatically, there being now some 40-50 known diseases of this type. During the past 15 years or so, there have been several reviews, dealing with either specific diseases or groups of diseases (Gompertz, 1972, 1974; Tanaka, 1975), or presenting the proceedings of symposia (Stern and Toothill, 1972) or workshops (Marner et al. , 1974). This present text deals comprehensively and in detail with the organic acids in human physiological fluids in health and in disease states, and is particularly concerned with the methods necessary for their separation, determination and indentification.
Book Synopsis Genetic Diagnosis of Endocrine Disorders by : Roy E. Weiss
Download or read book Genetic Diagnosis of Endocrine Disorders written by Roy E. Weiss and published by Academic Press. This book was released on 2015-10-09 with total page 462 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases Teaches the essentials of the genetic basis of disease in each major endocrine organ system Offers expert advice from genetic counselors on how to use genetic information in counseling patients Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing
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 Pediatric Board Study Guide by : Osama Naga
Download or read book Pediatric Board Study Guide written by Osama Naga and published by Springer. This book was released on 2015-03-27 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
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 Molecules to Medicine with mTOR by : Kenneth Maiese
Download or read book Molecules to Medicine with mTOR written by Kenneth Maiese and published by Academic Press. This book was released on 2016-02-21 with total page 474 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecules to Medicine with mTOR: Translating Critical Pathways into Novel Therapeutic Strategies is a one-stop reference that thoroughly covers the mechanistic target of rapamycin (mTOR). mTOR, also known as the mammalian target of rapamycin, is a 289-kDa serine/threonine protein kinase that is ubiquitous throughout the body and has a critical role in gene transcription and protein formation, stem cell development, cell survival and senescence, aging, immunity, tissue regeneration and repair, metabolism, tumorigenesis, oxidative stress, and pathways of programmed cell death that include apoptosis and autophagy. Incorporating a translational medicine approach, this important reference highlights the basic cellular biology of mTOR pathways, presents the role of mTOR during normal physiologic function and disease, and illustrates how the mechanisms of mTOR can be targeted for current and future therapeutic treatment strategies. Coverage of mTOR signaling includes the entire life cycle of cells that impacts multiple systems of the body including those of nervous, cardiovascular, immune, musculoskeletal, endocrine, reproductive, renal, and respiratory origin. Covers the role of mTOR by internationally recognized expert contributors in the field. Provides a clear picture of the complexity of mTOR signaling as well as of the different approaches that could target this pathway at various levels. Includes analysis of the role of mTOR and in both health and disease. Serves as an important resource for a broad audience of healthcare providers, scientists, drug developers, and students in both clinical and research settings.
Book Synopsis Paroxysmal Movement Disorders by : Kapil D. Sethi
Download or read book Paroxysmal Movement Disorders written by Kapil D. Sethi and published by Springer Nature. This book was released on 2020-11-18 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book addresses the challenges in the differential diagnosis and management of paroxysmal movement disorders. It provides the latest information on the genetics and pathophysiology, neurophysiology and neuroimaging of the core group of disorders in the field, namely the paroxysmal dyskinesias (PxD). Focused and concise, this guide features chapters that discuss other conditions that may be paroxysmal such as, episodic ataxia, startle syndromes and other more complicated groups of paroxysmal movement disorders such as ATP1A3 spectrum disorders. A chapter on secondary (acquired) paroxysmal dyskinesia highlights medical and other disorders that may result in paroxysmal dyskinesia. The book features a particularly nuanced chapter that discusses recent discoveries in the genetic aspects of PxD, relaying that paroxysmal dyskinesias are not channelpathies, but in fact are synaptophies and transportopathies. Additionally, expertly written chapters are supplemented by high quality images, tables, and videos. Paroxysmal Movement Disorders: A Practical Guide is primarily written to educate the reader on how to make a syndromic diagnosis of paroxysmal movement disorders and how to build the diagnostic work-up accordingly, as well as how to manage patients with paroxysmal movement disorders.
Book Synopsis Branched Chain Amino and Keto Acids in Health and Disease by : Siamak A. Adibi
Download or read book Branched Chain Amino and Keto Acids in Health and Disease written by Siamak A. Adibi and published by S. Karger AG (Switzerland). This book was released on 1984 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt:
