The Gangliosidoses PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download The Gangliosidoses PDF full book. Access full book title The Gangliosidoses by Bruno Volk. Download full books in PDF and EPUB format.
Author: Bruno Volk
Publisher: Springer Science & Business Media
ISBN: 1461587263
Category : Medical
Languages : en
Pages : 388
Get Book Here
Book Description
The history of so-called storage diseases goes back to the end of the 19th and to the beginning of the 20th century when Fabry, Tay, Sachs, Gaucher, Niemann, Hunter, and Hurler first described the disorders which up to now are called by their eponym. The clinical descriptions soon were followed by pathologic studies, and within a short time ,the hereditary characters of these rare afflictions came to be recognized. Although sporadic reports during the early part of this century dealt with biochemical analysis of the "stored" materials in these disorders, it was actually in the late 1930s that the abnormal deposits started to attract the increasing attention of chemists. S. H. Thannhauser brought the broad concept of lipidoses as a group of related disorders to the attention of the medical profession for the first time, and in 1939 Klenk observed that the brain of a patient with Tay-Sachs disease contained greatly increased amounts of a glycolipid for which he proposed the name "ganglioside. " 20 years has thrown new light on these afflic Work carried out in the past tions and has pinpointed the enzymatic and lipid abnormalities associated with the various "storage" diseases. Moreover, electron microscopic studies have permitted detailed investigations of the fine structure of the various organs of afflicted patients.
Author: Bruno Volk
Publisher: Springer Science & Business Media
ISBN: 1461587263
Category : Medical
Languages : en
Pages : 388
Get Book Here
Book Description
The history of so-called storage diseases goes back to the end of the 19th and to the beginning of the 20th century when Fabry, Tay, Sachs, Gaucher, Niemann, Hunter, and Hurler first described the disorders which up to now are called by their eponym. The clinical descriptions soon were followed by pathologic studies, and within a short time ,the hereditary characters of these rare afflictions came to be recognized. Although sporadic reports during the early part of this century dealt with biochemical analysis of the "stored" materials in these disorders, it was actually in the late 1930s that the abnormal deposits started to attract the increasing attention of chemists. S. H. Thannhauser brought the broad concept of lipidoses as a group of related disorders to the attention of the medical profession for the first time, and in 1939 Klenk observed that the brain of a patient with Tay-Sachs disease contained greatly increased amounts of a glycolipid for which he proposed the name "ganglioside. " 20 years has thrown new light on these afflic Work carried out in the past tions and has pinpointed the enzymatic and lipid abnormalities associated with the various "storage" diseases. Moreover, electron microscopic studies have permitted detailed investigations of the fine structure of the various organs of afflicted patients.
Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657
Get Book Here
Book Description
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: Juan M. Pascual
Publisher: Cambridge University Press
ISBN: 1107042054
Category : Medical
Languages : en
Pages : 507
Get Book Here
Book Description
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: 9780071363198
Category : Genetic disorders
Languages : en
Pages : 6338
Get Book Here
Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author: Bruno W. Volk
Publisher:
ISBN: 9781461587279
Category :
Languages : en
Pages : 296
Get Book Here
Book Description
Author:
Publisher: Elsevier
ISBN: 0080490301
Category : Science
Languages : en
Pages : 384
Get Book Here
Book Description
Tay-Sachs disease is a rare hereditary disease caused by a genetic mutation that leaves the body unable to produce an enzyme necessary for fat metabolism in nerve cells, producing central nervous system degeneration. In infants, it is characterized by progressive mental deterioration, blindness, paralysis, epileptic seizures, and death by age four. Adult-onset Tay-Sachs occurs in persons who have a genetic mutation that is similar but allows some production of the missing enzyme. There is no treatment for Tay-Sachs. A test to determine whether an infant is carrying the Tay-Sachs disease was introduced in 1969. However, work continues to be done to help find a cure. Because there is no cure for this deadly disease, genetic research is essential. Advances in Genetics presents an eclectic mix of articles of use to all human and molecular geneticists. They are written and edited by recognized leaders in the field and make this an essential series of books for anyone in the genetics field.
Author: Thomas Seyfried
Publisher: John Wiley & Sons
ISBN: 1118310306
Category : Science
Languages : en
Pages : 482
Get Book Here
Book Description
The book addresses controversies related to the origins of cancer and provides solutions to cancer management and prevention. It expands upon Otto Warburg's well-known theory that all cancer is a disease of energy metabolism. However, Warburg did not link his theory to the "hallmarks of cancer" and thus his theory was discredited. This book aims to provide evidence, through case studies, that cancer is primarily a metabolic disease requring metabolic solutions for its management and prevention. Support for this position is derived from critical assessment of current cancer theories. Brain cancer case studies are presented as a proof of principle for metabolic solutions to disease management, but similarities are drawn to other types of cancer, including breast and colon, due to the same cellular mutations that they demonstrate.
Author: Perminder S. Sachdev
Publisher: Cambridge University Press
ISBN: 1139485229
Category : Medical
Languages : en
Pages :
Get Book Here
Book Description
Schizophrenia may not be a single disease, but the result of a diverse set of related conditions. Modern neuroscience is beginning to reveal some of the genetic and environmental underpinnings of schizophrenia; however, an approach less well travelled is to examine the medical disorders that produce symptoms resembling schizophrenia. This book is the first major attempt to bring together the diseases that produce what has been termed 'secondary schizophrenia'. International experts from diverse backgrounds ask the questions: does this medical disorder, or drug, or condition cause psychosis? If yes, does it resemble schizophrenia? What mechanisms form the basis of this relationship? What implications does this understanding have for aetiology and treatment? The answers are a feast for clinicians and researchers of psychosis and schizophrenia. They mark the next step in trying to meet the most important challenge to modern neuroscience – understanding and conquering this most mysterious of human diseases.
Author: Atul B. Mehta
Publisher: John Wiley & Sons
ISBN: 1118514696
Category : Medical
Languages : en
Pages : 1
Get Book Here
Book Description
The last two decades have seen a huge expansion in research in the area of lysosomal storage disorders, which has substantially extended our understanding of both the scientific and the clinical basis of these diseases. Lysosomal Storage Disorders: A Practical Guide is the fruit of an ambitious project aiming to review both the scientific and the clinical aspects of lysosomal storage disorders, resulting in this accessible volume, which gives an up-to-date overview of the subject. There is substantial scientific interest in these diseases: new advances in small molecule therapy are likely to be useful in the near future, and trials are already underway. Lysosomal storage disorders offer a unique platform for teaching modern clinical science, from basic genetics through to clinical applications. The first part of the book reviews and classifies our current understanding of the physiology and pathophysiology of lysosomal storage disorders. The second part of the book reviews individual diseases, and gives perspectives from patients and experts looking towards future therapeutic directions. Lysosomal Storage Disorders: A Practical Guide is the ideal guide for a wide audience including scientists, clinicians, health care workers and administrators, those working in the pharmaceutical industry, patients and their organisations. Titles of related interest Haematology at a Glance • Mehta • ISBN 9781405179706 Atlas of Endocrine and Metabolic Disease • Pozzilli • ISBN 9780470656273
Author: Fred F. Ferri, MD, FACP
Publisher: Elsevier Health Sciences
ISBN: 0323076998
Category : Medical
Languages : en
Pages : 572
Get Book Here
Book Description
Ferri's Differential Diagnosis is a quick reference to the differential diagnosis, etiology, and classification of clinical disorders, signs, and symptoms. Dr. Fred F. Ferri-the respected best-selling author-presents over 1000 signs, symptoms, and clinical disorders. Comprehensive yet small enough to fit in your pocket, this portable guide is a rapid resource for everything you see in daily practice-from abdominal distension to Zenker's Diverticulum. Quickly locate the information you need with an organization that presents differential diagnosis by sign and symptom as well as disorder. Easily identify the likeliest diagnosis through diagnostic possibilities listed in order of incidence. Tap into the authoritative guidance of Dr. Fred Ferri, the respected expert responsible for best-selling titles such as Ferri's Clinical Advisor, Ferri's Fast Facts, and Practical Guide to the Care of the Medical Patient. Apply the differential diagnosis of over 100 new signs, symptoms, and clinical disorders.
