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Gaucher's Disease: From Diagnosis to Treatment

by Lunawati L. Bennett (Editor)
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“Gaucher’s 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 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.
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  1. ISBN-10
    1536180238
  2. ISBN-13
    978-1536180237
  3. Publisher
    Nova Science Pub Inc
  4. Publication date
    July 13, 2020
  5. Language
    English
  6. Print length
    169 pages
  7. See all details
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Product details

  • Publisher ‏ : ‎ Nova Science Pub Inc (July 13, 2020)
  • Language ‏ : ‎ English
  • Paperback ‏ : ‎ 169 pages
  • ISBN-10 ‏ : ‎ 1536180238
  • ISBN-13 ‏ : ‎ 978-1536180237
  • Item Weight ‏ : ‎ 9.3 ounces

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