Gaucher Disease Book in PDF, ePub and Kindle version is available to download in english. Read online anytime anywhere directly from your device. Click on the download button below to get a free pdf file of Gaucher Disease book. This book definitely worth reading, it is an incredibly well-written.
In September of 2007 Gaucher Disease received a commendation in the Haematology category of the 2007 British Medical Association Medical Book Competition! 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 proto
"Gaucher's Disease: From Diagnosis to Treatment" was designed as an educational resource for all professionals involved in the care of patients with Gaucher disease (GD). Chapter 1 is an introduction about GD. GD is the most common autosomal recessive lysosomal storage disease (LSD) due to the deficiency or absence of the activity of enzyme glucosylceramidase (GCase) or also known as acid- glucosidase (GBA1) or uridine phosphate glucosylceramide synthase (UDP-GLC). Defects in these enzymes cause miss-sorting or loss function of lysosomal proteins leading to accumulation of glucocerebroside (GLC) in the tissue macrophages monocyte. Accumulation of GLC cause enlargement of the spleen, destruction of bone, anemia, thrombocytopenia, and abnormalities of the lungs. GD is classified into three types: type 1 GD (GD1) is a chronic and non-neuronopathic accounting for 95% of GD cases, and types 2 and 3 (GD2, GD3) involves nerve cell destruction causing acute brainstem dysfunction or progressive neuroleptic deterioration, respectively. Chapter 1 review disease classification, epidemiology, pathophysiology, and clinical manifestations of GD.Chapter 2 discusses GD diagnosis and clinical presentations from prenatal, newborn, first year of life, childhood, adolescence, and adulthood patients suspected to have GD. Several biomarkers, tools used to detect abnormal biomarkers such as chitotriosidase, pulmonary and activation-regulated chemokines, and other inflammatory markers are discussed, in addition to methods used to detect these biomarkers. Chapter 3 highlights available enzyme replacement therapy (ERT), clinical trials, dosing, and adverse drug reaction of each ERT, pregnancy information, and effect of ERT on endocrine and metabolic profiles. Chapter 4 discusses available substrate reduction therapy (SRT), clinical trials, dosing, adverse drug reaction, pregnancy information, drug-drug interaction and patients' polymorphism profiles that influence the dosing of SRT. Chapter 5 discusses type 2 and 3 GD which are the neuronopathic variants of the GD, genotype and phenotype of the patients, role of ERT or SRT or gene therapy, chaperone therapy, and hematopoietic stem cell transplantation. Chapter 6 discusses common complication of GD such as bone and hepatocellular abnormalities, increased risk of cancer and Parkinson Disease development. Chapter 7 highlights several novel therapies with their mechanisms of action, details regarding ongoing or completed clinical trials such as newer SRT lucerastat which is on clinical trials for possible use in GD3. At this time, there are no drugs available to treat GD2 or GD3. Promising novel therapy include pharmacology chaperone (PC), antioxidants, and gene therapy. There are 2 PCs currently being tested in clinical trial, ambroxol and arimoclomol. Ambroxol, an over the counter drugs has been used to treat various airway infections, showed promising result to cross blood brain barrier that provide promising options for GD3 treatment.
Gaucher’s Disease: New Insights for the Healthcare Professional: 2013 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Immunology in a concise format. The editors have built Gaucher’s Disease: New Insights for the Healthcare Professional: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Immunology in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Gaucher’s Disease: New Insights for the Healthcare Professional: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Gaucher's Disease: New Insights for the Healthcare Professional: 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Gaucher Disease in a concise format. The editors have built Gaucher's Disease: New Insights for the Healthcare Professional: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Gaucher Disease in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Gaucher's Disease: New Insights for the Healthcare Professional: 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Gaucher Disease: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Gaucher Disease in a compact format. The editors have built Gaucher Disease: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Gaucher Disease in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Gaucher Disease: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Gaucher's Disease: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Sphingolipidoses in a compact format. The editors have built Gaucher's Disease: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Sphingolipidoses in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Gaucher's Disease: New Insights for the Healthcare Professional: 2011 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.