Desnick Gaucher Disease - A Century of Delineati on and Research

  • 764 Pages
  • 4.83 MB
  • English
John Wiley & Sons Inc
Clinical & Internal Med
The Physical Object
ID Numbers
Open LibraryOL10330342M
ISBN 100471563897
ISBN 139780471563891

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Prog Clin Biol Res. ; Gaucher disease: a century of delineation and understanding. Desnick RJ. PMID: [PubMed - indexed for MEDLINE]Cited by: Gaucher disease: A century of delineation and research.

Robert J. Desnick, Shimon Gatt, Gregory A. Grabowski (eds). New York: Alan R. Liss, Inc., Gaucher disease: a century of delineation and understanding Read time: 1 mins 1st Jan Author: Desnick RJ.

Progress in Clinical and Biological Research. Ref.: Prog Clin Biol Res ; 30 Share. Abstract not available. Read abstract on library site. Gaucher disease, a century of delineation and research: proceedings of the First International Symposium on Gaucher Disease, held in New York City, JulyAuthor: Robert J Desnick ; Shimon Gatt ; Gregory A Grabowski.

Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous multisystem condition. Added 2 years ago Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an.

Lee pathology of Gaucher :Desnick RJ,Gatt S,Grabowsky r disease:A century of delineation and York:Alan R Liss, In addition to an enlarged spleen and liver, people with Gaucher disease may have lung, kidney, and digestive problems; bone problems, including growth retardation in children, joint pain, spontaneous fractures, and acute bone crises; nosebleeds, bruising,anemia, and other blood-related problems; and general fatigue.

Sidransky has conducted research on Gaucher disease for the last 28 years and made the connection between Gaucher disease and Parkinson’s disease in Gaucher disease occurs when GBA1, the gene that codes for the protein glucocerebrosidase, is mutated. This protein normally helps cells dispose of certain fats (lipids), a type of waste.

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Gaucher disease is a glycolipid storage disorder characterized by accumulation of glucocerebroside in the liver, spleen, and bones, and caused by a deficiency of glucocerebrosidase. Glucocerebrosidase cDNA has been cloned and sequenced, and much has been learned about the synthesis and processing of this enzyme.

Severity of the disease was assessed with a scoring index according to age at diagnosis and extent of organ involvement.

Mutation was associated with a mild clinical phenotype, and mutation with a more severe phenotype. Mutation is the most common cause of Gaucher's disease Cited by:   Gaucher Disease: A Century of Delineation and Research: Progress in Clinical & Biological Research, vol Although rare in the general population, Gaucher disease is the most prevalent of the lysosomal storage disorders, making research into this particular orphan disorder an invaluable prototype for the diagnosis, research, and treatment of : Hardcover.

Gaucher disease (GD) is a lysosomal storage disorder (LSD). These metabolic disorders are caused by mutations in genes encoding a single lysosomal enzyme or cofactor, resulting in intracellular accumulation of undegraded substrates (Neufeld, ; Futerman & van Meer, ).

Most LSDs, including GD, are inherited in an autosomal recessive by: Gaucher disease (GD), the most prevalent lysosomal storage disease (1), is an autosomal recessive disorder of glycosphingolipid metabolism, resulting from the reduced activity of the lysosomal Genetic Heterogeneity of Gaucher Disease: Enzymatic and Immunologic Studies | SpringerLinkAuthor: Gregory A.

Grabowski, Diane Fabbro, Tama Dinur, Tama Dinur, Karen Osiecki-Newman, Jack Goldblatt, Am. Human acid β-glucosidase (β-Glc, D-glucosyl-N-acylsphingosine glucohydrolase, EC ) is a membrane associated lysosomal enzyme which cleaves the βglucosidic linkage of its natural substrate, glucosylceramide (GC), and synthetic β-glucosides 1,2.

The defective activity of this enzyme leads to the subtypes and variants of Gaucher disease by: 3. Gaucher Disease Fibroblast, NIH 3T3 cells that provide amphotropic helper functions (17) were transfected wug ofthe glucocerebrosidaseretrovirus vectorDNAfollow.

The National Gaucher Foundation (NGF) is an independent nonprofit dedicated to serving U.S. patients with Gaucher disease and their families. Through financial support, educational programming, patient services, and collaboration with medical professionals, NGF.

Gaucher Disease and Its Treatment Options Article Literature Review (PDF Available) in Annals of Pharmacotherapy 47(9) September with Reads How we measure 'reads'.

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Gaucher's disease continues to be a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. Analyses of several thousand affected individuals have broadened the range of the pan-ethnic disease variants, provided initial genotype and phenotype correlations, and established the effectiveness of enzyme by:   Desnick RJ Gaucher disease: a century of delineation and understanding.

Gaucher Disease A Century of Delineation and Research. New York, The Gaucher Registry is now the largest database in existence for documenting information about patients with GD. The availability of this large, international database provides an opportunity to pool Cited by:   Gaucher disease type 1 is the most common form.

Gaucher disease follows an autosomal recessive pattern of inheritance. It is caused by mutations in the GBA gene.

Treatment depends on the specific subtype, and may include enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). DIN: Deutsches Institut fur Normung E.V. AWS: American Welding Society, Inc. IPC: Association Connecting Electronics Industries.

Gaucher Disease A Century of Delineation and Research New York, NY Alan R Liss Inc; Google Scholar James SPStromeyer FWChang CBarranger JA Liver abnormalities in patients with Gaucher by: Gaucher disease: pathological mechanisms and modern management Marina Jmoudiak and Anthony H.

Futerman Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel Summary Gaucher disease, the most common lysosomal storage disor-der, is caused by the defective activity of the lysosomal enzyme. The Association actively promotes research into Gaucher disease. The invitation to apply for a research grant (scientific or clinical) in the field of Gaucher disease appears in Gaucher News and the website.

All applications are externally refereed and peer reviewed. All peer reviewed applications are presented to the board of Directors for. The Gaucher Registry is a database that, as of Septemhas information on nearly patients with Gaucher disease of all types. 5 More than 90% have type I disease and form the basis of this retrospective review of the incidence of cancer in patients with Gaucher by: InBrady's group developed a convenient diagnostic test for Gaucher disease which works by measuring the activity of the enzyme glucocerebrosidase in white blood cells.

The amount of enzyme one's body makes directly relates to how severe a case of Gaucher disease one has. Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain.

Symptoms usually develop by 3 months of age and include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and enlargement of the liver and spleen. Gaucher's disease or Gaucher disease (/ ɡ oʊ ˈ ʃ eɪ /) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme Specialty: Endocrinology.

Gaucher disease is rare in the general population. People of Eastern and Central European (Ashkenazi) Jewish heritage are more likely to have this disease. It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the disease gene to their child in order for the child to develop the disease.InPhilippe Gaucher described a year-old woman with massive splenomegaly and unusually large cells in the spleen, which he called a “primary epithelioma of the spleen.” The systemic nature and inheritance of the disease and its variants involving the viscera and CNS were described over the next by:   Gaucher disease is an inherited disorder that affects many of the body's organs and tissues.

Description Desnick Gaucher Disease - A Century of Delineati on and Research FB2

The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common form of this condition.