Lipid Storage Disorders
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Home > Art, Film & Photography > Lipid Storage Disorders: Tay-Sachs Disease, Canavan Disease, Pelizaeus-Merzbacher Disease, Neuronal Ceroid Lipofuscinosis, Niemann-Pick Disease
Lipid Storage Disorders: Tay-Sachs Disease, Canavan Disease, Pelizaeus-Merzbacher Disease, Neuronal Ceroid Lipofuscinosis, Niemann-Pick Disease

Lipid Storage Disorders: Tay-Sachs Disease, Canavan Disease, Pelizaeus-Merzbacher Disease, Neuronal Ceroid Lipofuscinosis, Niemann-Pick Disease


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About the Book

Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Pages: 39. Chapters: Tay-Sachs disease, Canavan disease, Pelizaeus-Merzbacher disease, Neuronal ceroid lipofuscinosis, Niemann-Pick disease, type C, Sandhoff disease, Gaucher's disease, Metachromatic leukodystrophy, Niemann-Pick disease, Wolman disease, Fabry disease, Batten disease, Krabbe disease, GM2-gangliosidosis, AB variant, Cholesteryl ester storage disease, Schindler disease, Multiple sulfatase deficiency, GM2 gangliosidoses, GM1 gangliosidoses, Niemann-Pick disease, SMPD1-associated, Farber disease, Sphingolipidoses, Cerebrotendineous xanthomatosis, Lipid storage disorder, Infantile neuronal ceroid lipofuscinosis, Sulfatidosis, Jansky-Bielschowsky disease. Excerpt: Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. In its most common variant, known as infantile Tay-Sachs disease, it causes a relentless deterioration of mental and physical abilities that commences around six months of age and usually results in death by the age of four. It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. There is currently no cure or treatment. Tay-Sachs disease is rare, and other autosomal recessive disorders, such as cystic fibrosis and sickle cell anemia, are far more common. The disease is named after British ophthalmologist Warren Tay, who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs of Mount Sinai Hospital, New York who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish (Ashkenazi) population in 1887. Research ...


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Product Details
  • ISBN-13: 9781155459288
  • Publisher: Books LLC, Wiki Series
  • Publisher Imprint: Books LLC, Wiki Series
  • Height: 246 mm
  • No of Pages: 40
  • Spine Width: 2 mm
  • Weight: 91 gr
  • ISBN-10: 1155459288
  • Publisher Date: 30 Aug 2011
  • Binding: Paperback
  • Language: English
  • Returnable: N
  • Sub Title: Tay-Sachs Disease, Canavan Disease, Pelizaeus-Merzbacher Disease, Neuronal Ceroid Lipofuscinosis, Niemann-Pick Disease
  • Width: 189 mm


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