Diseases of metabolism

detailed methods of diagnosis and treatment; a text for the practitioner ...
  • 1045 Pages
  • 1.82 MB
  • 4084 Downloads
  • English
by
Saunders , Philadelphia
Metabolism, Disorde
The Physical Object
Paginationxviii, 1045 p. illus. (part col.)
ID Numbers
Open LibraryOL14926192M

Drug Metabolism in Diseases is a comprehensive reference devoted to the current state of research on the impact of various disease states on drug metabolism.

The book contains valuable insights into mechanistic effects and examples of how to accurately predict drug metabolism during these different pathophysiological states. Cancer as a Metabolic Disease reevaluates the origins of cancer based on the latest research findings as well as several decades of studies exploring the defects in tumor cell energy metabolism.

Author Thomas Seyfried is a biochemical geneticist who has been investigating the lipid biochemistry of cancer for thirty by: Drug Metabolism in Diseases is a comprehensive reference devoted to the current state of research on the impact of various disease states on drug metabolism. The book contains valuable insights into mechanistic effects and examples of how to accurately predict drug metabolism during these different pathophysiological : Hardcover.

Optimal therapy, including dosages, makes for a well-rounded approach to the diagnosis and management of genetic diseases of metabolism. The book has always been small enough to fit in a pocket, and became a favourite of physicians in training in Paediatrics and Genetics.

Here, we highlight the diseases of metabolism for which a gene has been identified, cloned and mapped. Many of these are inborn errors of metabolism: inherited traits that are due to a mutation in a metabolic enzyme; others involve mutations in regulatory proteins and in transport mechanisms.

Adrenoleukodystrophy. Diabetes, type 1. Gaucher disease. Biomarkers in Inborn Errors of Metabolism Clinical Aspects and Laboratory Determination Disorders of amino acid metabolism are a major source of diseases of inborn errors of metabolism (IEM).

that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases.

The book covers. “Metabolism of Human Diseases” is a must-have, state-of-the-art textbook written by International experts for graduate students, postdocs and scientists in metabolic research, biochemistry, physiology and pharmacy as well as for physicians interested in molecular mechanisms underlying common human diseases.

Diseases of metabolism. Philadelphia, Saunders, (OCoLC) Online version: Duncan, Garfield G. (Garfield George), Diseases of metabolism. Philadelphia, Saunders, (OCoLC) Document Type: Book: All Authors / Contributors: Garfield G Duncan; Margaret J Albrink; Philip K Bondy; Leon E Rosenberg.

The authoritative reference to bone diseases and disorders of mineral metabolism, revised and updated.

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Now in its ninth edition, The Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism offers an updated and comprehensive guide to bone and mineral it was first published 30 years ago, the Primer has become the leading reference.

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.

Metabolic disease, any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular level.

Thousands of enzymes participating in numerous interdependent metabolic pathways carry out this process. Metabolic diseases affect the ability of the cell to perform critical biochemical reactions that involve the processing or transport of.

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others ().In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the Specialty: Medical genetics.

Metabolism of Human Diseases discusses the metabolism and signaling pathways in tissues and organs known to be relevant for common human diseases.

It thus bridges the existing gap between biochemistry and physiology textbooks, on the one hand, and pathology textbooks, on. Inherited metabolic disorders are one cause of metabolic disorders, and occur when a defective gene causes an enzyme deficiency. These diseases, of which there are many subtypes, are known as inborn errors of metabolism.

Metabolic diseases can also occur when the liver or pancreas do not function properly. Types. The principal classes of metabolic disorders are:Specialty: Endocrinology.

Metabolic disease - Metabolic disease - Disorders of lipid metabolism: Lipids are large, water-insoluble molecules that have a variety of biological functions, including storing energy and serving as components of cellular membranes and lipoproteins. Cells that line the small intestine absorb dietary lipids and process them into lipoprotein particles that enter the circulation via.

This pocket size clinical reference provides concise information on diagnosis and management of inherited metabolic diseases. Topics in this handy guide cover approaches to metabolic diseases, specialized investigations of metabolic diseases, functional tests and additional diagnostic procedures, a system and symptom based approach to patients, and commonalities of s: 1.

Description Diseases of metabolism PDF

Considering the enormous amount of information collected since on mitochondrial structure and function, it is surprising that diseases of terminal mitochondrial metabolism, that is, the Krebs cycle and respiratory chain, have attracted the attention of Author: Salvatore diMauro, Darryl C De Vivo.

Metabolism is the chemical process your body uses to transform the food you eat into the fuel that keeps you alive. Nutrition (food) consists of proteins, carbohydrates, and : Sandy Calhoun Rice. COVID Resources. Reliable information about the coronavirus (COVID) is available from the World Health Organization (current situation, international travel).Numerous and frequently-updated resource results are available from this ’s WebJunction has pulled together information and resources to assist library staff as they consider how to handle.

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your.

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 8th Edition is the comprehensive revision of the field-leading reference on bone and mineral health.

The eighth edition has been fully revised by the leading researchers and clinicians in the field to provide concise coverage of the widest possible spectrum of metabolic bone diseases and. 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. Inborn errors of metabolism are generally categorized as rare diseases.

Their presentations are often so subtle and insidious as to cause daunting diagnostic challenges for even the most astute clinicians.

Thus, irreversible morbidity and preventable mortality have been unavoidable until recent decades because of delayed diagnoses. Five years after its predecessor, the second edition of Inborn Metabolic Diseases: Diagnosis and Treatment is appearing in an almost completely revised form.

Its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism.

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For that reason, clinical approach has not only remained the central theme of the first chapter, but also become the. The 2nd Edition of Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology is limited to those diseases with either: 1) recognized biochemical abnormalities supplemented with pathologic and genetic information, and in which a mutation leads to an enzyme deficiency that causes a metabolic disease such as phenylketonuria Cited by: 3.

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 8th Edition is the comprehensive revision of the field-leading reference on bone and mineral health.

The eighth edition has been fully revised by the leading researchers and clinicians in the field to provide concise coverage of the widest possible spectrum of metabolic bone diseases and Format: NOOK Book (Ebook). There are eleven (11) distinct diseases that are commonly considered to be glycogen storage diseases.

Key Terms. enzyme: A globular protein that catalyses a biological chemical reaction. glycogen: A polysaccharide that is the main form of carbohydrate storage in animals; converted to glucose as needed.

By providing novel and thought-provoking insights into the mechanisms and physiological significance of brain iron metabolism and related diseases, the book stimulates further new research directions.

It helps graduate students and researchers gain an overall picture of brain iron metabolism and the pathogenesis of neurodegenerative diseases. Book Notes | 1 April It is documented by an extensive bibliography and is probably the most comprehensive review of the field of metabolism available in one volume.

The discussions, by leading authorities, deal with the interpretation of current basic research and the handling of the clinical situations presented by metabolic disease.

Diseases of Metabolism. In his preface to this work the Editor discusses the problems of presentation of a book on metabolism and outlines his aim as an attempt "to provide for the physician a practical basis for the understanding, diagnosis and treatment of the various metabolic disorders." The first five chapters discuss metabolism of.

Endocrine and Metabolism Diseases and Disorders SourceBook: Basic Information for the Layperson about Pancreatic and Insulin-Related Disorders / Edition 1 available in Hardcover. Audience: This is a book that would be useful for a patient who has been given an endocrine diagnosis and would like to read more information regarding the disease Price: $Metabolism refers to all processes in the body that break down and convert ingested substances to provide the energy and nutrients needed to sustain life.

Foods, liquids, and drugs all generally undergo metabolic processes within the body. Many foods are complex materials that need to be broken down into simpler substances, which in turn become “building blocks” for the body to .title = {Diseases of metabolism and of the blood, animal parasites, toxicology, }, copyright = {Not provided.

Contact Contributing Library to verify copyright status.}.