2 edition of Lipidoses: diseases of the intracellular lipid metabolism. found in the catalog.
Lipidoses: diseases of the intracellular lipid metabolism.
Siegfried Josef Thannhauser
|LC Classifications||RC627.L5 T4 1958|
|The Physical Object|
|Pagination||xiv, 600 p.|
|Number of Pages||600|
|LC Control Number||58005445|
After his MD degree from Mainz University, Germay, Benedikt Schoser has done his postgraduate training in neurology, psychiatry, neurological intensive care medicine, and neurophysiology in Mainz, Frankfurt, and Hamburg Germany, and is now associated professor of neurology at the Ludwig-Maximilians-University Munich, Germany and chair of the interdisciplinary center of neuromuscular . Lipid Storage Disorders. Â Introduction. The lysosomal lipid storage diseases are diverse disorders, each due tocaused by an inherited deficiency of lysosomal hydrolase leading to intralysosomal accumulation of enzyme enzyme–specific substrate. 1 They are rare, metabolic disorders that can involve any organ of the body. Though ocular involvement in these disorders is rarer as compared to.
Genetics and the lipidoses Genetics and the lipidoses Knudson, Alfred Formal genetic analyses of family data in cases of errors of lipid metabolism are able to distinguish monogenie vs. multigenic and nongenetie disorders. se data, toger with population data, provide criteria for homogeneity of cases which can be useful in interpretation of biochemical findings. peculiarly. These two different lipids, sphingomyelin and cholesterol, are normal constituents of specific lipid microdomains called rafts. Because accumulation of raft lipids is observed not only in NP diseases but also in many other lipidoses, we forward the hypothesis that lysosomal storage diseases can be caused by the accumulation of lipid rafts in.
Heredodegenerative Diseases John H. Menkes Advances in molecular biology have pointed to a basic similarity between diseases of metabolic origin (see Chapter 1) and heredodegenerative diseases. Nevertheless, essential differences remain. In metabolic disorders, the biochemical derangement of tissue or body fluids has led, in enzymopathies such as phenylketonuria or maple syrup urine disease. Metabolic disorders of the Eye: Michael Duplessie co-author LIPID METABOLISM DISORDERS Hyperlipoproteinemias Ocular manifestations of hyperlipoproteinemias result from extracellular deposits of cholesterol, cholesterol esters, phospholipids, and triglycerides. Most are constituents of the plasma Neurological diseases such as.
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Additional Physical Format: Online version: Thannhauser, Siegfried, Lipidoses; diseases of the intracellular lipid metabolism. New York, Grune & Stratton, What is the meaning of an elevated serum cholesterol, of lipemic serum, of a xanthomatous lesion. Today the medical literature abounds with articles and books dealing with the lipids and disorders of lipid metabolism, for these medically popular subjects are thought likely to shed light upon the obscurities of : William E.
Connor. Lipid storage diseases, or the lipidoses, are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body. People with these disorders either do not produce enough of one of the enzymes needed to break down (metabolize) lipids or they produce enzymes that do.
Lipidoses: diseases of the intracellular lipid metabolism by Thannhauser, Siegfried Josef and a great selection of related books, art and collectibles available now at Lipidoses; diseases of the cellular lipid metabolism. New York, Oxford Univ. Press, [©] (OCoLC) Document Type: Book: All Authors / Contributors: Siegfried Thannhauser; Henry A.
Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease, metachromatic leukodystrophy, multiple sulfatase deficiency and Farber are generally inherited in an autosomal recessive fashion, but Specialty: Endocrinology.
Considered to be a world authority on diseases of fat metabolism. Author of the book: "Lipidoses: Diseases of the intracellular lipid metabolism" Emigrated to the United States in when it was feared he was a potential target of the Nazis.
A biography of his life was written by Alan F. Hofmann and Nepomuk Zöllner for the Falk Foundatation. Author(s): Thannhauser,Siegfried, Title(s): Lipidoses; diseases of the intracellular lipid metabolism. Edition: 3d ed., rev. and enl. Country of. Edition: [2d ed.] Country of Publication: United States Publisher: New York, Oxford Univ.
Press, [c] Description: (3)(), 10 p. ill. Language: English MeSH: Lipidoses* Notes: Reprinted from Oxford loose-leaf medicine.
3d ed. has title: Lipidoses; diseases of the intracellular lipid metabolism. NLM ID: R[Book]. The increasing interest in serious inherited diseases among professional people within medicine and social care, politicians and the general public is dependent upon several factors.
The Medical Importance of the Research on Lipid Storage Diseases with a Historical Review on the Advances in Gaucher Disease | Author: Lars Svennerholm.
LIPIDOSES: Diseases of the Intracellular Lipid Metabolism—Third Edition, Revised and Enlarged By Maurice Sokolow Topics: Book ReviewAuthor: Maurice Sokolow.
Lipid Histochemistry and Electron Microscopy in Adult Niemann-Pick Disease* ROBERT LYNN, M.D.J and ROBERT D. TERRY, M.D. Bronx, New York NIEMANN-PICK disease is characterized by the widespread storage of lipids, mainly the diaminophosphatide, sphingomyelin, in the reticuloendothelial system, the nervous system and some other by: Metabolic disorders constitute an expanding group of flux diseases that includes heterogeneous conditions (see Table ).Thus, a unifying definition becomes necessary.
Strictly speaking, neurometabolic diseases arise from genetic deficiency of intermediary metabolism enzymes, in contrast with mutations in genes encoding cytostructural proteins or proteins involved in cell division, immunity.
Disorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to genetic. Essential familial hypercholesterolemia (EFH) is an hereditary disorder of lipid metabolism which is characterized chemically by elevation of plasma cholesterol and phospholipids due to an increased concentration of beta-lipoproteins.
The cholesterol to phospholipid ratio is greater than one. Garrod called these diseases “ inborn errors of metabolism, ” a name that persists to this day. It has been nearly a century since Dr. Garrod made his discovery, and in that time scientists have identified more than genetic mutations that cause different metabolic disorders.
Lysosomal storage diseases (LSDs; / ˌ l aɪ s ə ˈ s oʊ m əl /) are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function.
Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is Specialty: Endocrinology.
Lipid Storage Disorders by R. Salvayre,available at Book Depository with free delivery worldwide. But research on many other lipidoses was presented, as lectures or posters and avidly discussed.
Other topics presented in special sessions were drug induced lipidoses and peroxisomal disorders. The meeting ended with a session devoted to medical aspects of disorders of lipid : Springer US. Parkinson’s disease (PD) is a neurodegenerative disease characterized by a progressive loss of dopaminergic neurons from the nigrostriatal pathway, formation of Lewy bodies, and microgliosis.
During the past decades multiple cellular pathways have been associated with PD pathology (i.e., oxidative stress, endosomal-lysosomal dysfunction, endoplasmic reticulum stress, and immune response Cited by:.
The lipidome of the liver and the secreted circulating lipoproteins can now be interrogated conveniently by automated mass spectrometric methods.
Multivariate analysis of the liver and serum lipid composition in various animal modes or in human patients has pointed to specific molecular species markers. The perturbations of lipid metabolism can be categorized on the basis of three basic Cited by: • Clinicopathologic findings are reported of a woman with generalized plane xanthoma, multiple myeloma (IgG type K), and hyperlipemia with very high levels of serum cholesterol and triglyceride.
Complexing of the serum lipoproteins and immunoglobulins had cryoglobulin properties and was separable by Cited by: in lipid metabolism can be (Early, see ﬁgur e) primary pathogenic contributors, leading to protein elevations, lipid modiﬁed proteins and sphingolipid-induced membrane composition and loss of.