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  • spleen
  • Document effects of Gaucher disease in different systems of body, including nervous system, liver, and spleen. (clinicaltrials.gov)
  • Changes in immune cell composition in the spleen and lymph nodes are less profound and occur only in severe disease. (nih.gov)
  • When this enzyme doesn't work, glucocerebroside accumulates, which in turn causes liver and spleen enlargement, changes in the bone marrow and blood, and bone disease. (wikipedia.org)
  • diagnosis
  • Although carrier-screening programs in this population have been established at some centers to identify couples at risk for having a child affected with Gaucher disease, testing must be offered in conjunction with genetic counseling to provide couples at risk, even asymptomatic individuals, with a description of the range of associated phenotypes and their options, which include prenatal diagnosis. (medscape.com)
  • Disease or patient registries are collections of secondary data related to patients with a specific diagnosis, condition, or procedure, and they play an important role in post marketing surveillance of pharmaceuticals. (wikipedia.org)
  • Genetic Disorders
  • Termeer created a business model adopted by many others in the biotech industry by garnering steep prices- mainly from insurers and government payers- for therapies for rare genetic disorders known as orphan diseases that mainly affect children. (wikipedia.org)
  • severity
  • These changes correlated strongly with disease severity. (nih.gov)
  • The cellular changes in GCase deficiency were accompanied by elevated T-helper (Th)1 and Th2 cytokines that also tracked with disease severity. (nih.gov)
  • Profound changes in thymic immune cells in GBA1-deficient mice correlate with disease severity. (nih.gov)
  • Shire
  • This study also contains company profiling, product picture and specifications, sales, market share and contact information of various international, regional, and local vendors of United States Gaucher Disease Market, some of them are Sanofi, Shire, Actelion Pharma, Pfizer & ISU Pharm . (medgadget.com)
  • disorder
  • Gaucher disease is a genetic disorder that affects many of the body's organs and tissues. (healthcentral.com)
  • As the lipid accumulates, the glucosyl ceramide gets stored in macrophages (the scavenges cells of the body), which takes up characteristic appearance unique to those affected with this disorder ('Gaucher Cells' - basically termed as). (pharmainfo.net)
  • Gaucher Disease is the second most common lysosomal storage disorder. (medgadget.com)
  • Actelion currently has 10 compounds in its pipeline - including 3 in late-stage development - and 4 medicines on the market for orphan diseases: Tracleer (bosentan): Tracleer was the first oral treatment approved for pulmonary arterial hypertension, a rare, chronic, life-threatening disorder that severely compromises the functions of the lungs and heart. (wikipedia.org)
  • clinical
  • In 1998 at the 3rd European Working Group for Gaucher Disease, the UK patient representative for neuronopathic Gaucher disease made a plea to develop a consensus paper for Europe on the management of Neuronopathic Gaucher disease as treatment varied considerably in different countries in terms of dosage of enzyme replacement therapy and clinical management. (gaucher.org.uk)
  • The objectives of the registry include to evaluate the safety and long-term effectiveness of velaglucerase alfa, to characterize patients receiving velaglucerase alfa or other Gaucher Disease-specific treatments, to gain a better understanding of the natural history of GD and to serve as a database for evidence-based management of Gaucher Disease over time in real-life clinical practice. (clinicaltrials.gov)
  • We intend to utilize the PDR to identify groups of patient who are of high clinical suspicion for undiagnosed Gaucher disease. (clinicaltrials.gov)
  • Sutphin, John (ed.). 2007-2008 Basic and Clinical Science Course Section 8: External Disease and Cornea. (wikipedia.org)
  • severe
  • In contrast to the profound defects in the thymus, there were only limited cellular defects in peripheral lymphoid organs, mainly restricted to mice with severe disease. (nih.gov)
  • recombinantly
  • drugs made recombinantly, since there is no concern about diseases being transmitted from the tissue used in harvesting, and are less expensive to manufacture. (wikipedia.org)
  • physician
  • In its simplest form, a disease registry could consist of a collection of paper cards kept inside "a shoe box" by an individual physician. (wikipedia.org)
  • velaglucerase
  • Patients included may be those who are untreated, naive to therapy, individuals who are currently or have been previously treated with velaglucerase alfa (VPRIV), or individuals who have been receiving or are currently exposed to other treatments for Gaucher disease. (clinicaltrials.gov)
  • treatments
  • With this knowledge, we can look forward to developing treatments that are directed not only to macrophages, but to all cell types involved in the disease process. (redorbit.com)
  • cause
  • SCARB2 is a receptor for two viruses that cause hand, foot, and mouth disease in children, Enterovirus 71 and Coxsackievirus A16. (wikipedia.org)
  • rare diseases
  • Termeer was named as one of the top fifty leaders of thought in orphan drugs and rare diseases in a list published by Terrapin for the World Orphan Drug Congress which included "eminent personalities that have advanced rare disease research. (wikipedia.org)
  • He will always be known as the guy who figured out how to build a great business by making drugs for rare diseases. (wikipedia.org)
  • Osteochondrodysplasias are rare diseases. (wikipedia.org)