منابع مشابه
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.
BACKGROUND Mucopolysaccharidosis type IIID (MPS-IIID), or Sanfilippo syndrome type D, is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylglucosamine-6-sulfatase (GNS) gene, leading to impaired degradation of heparan sulfate. OBJECTIVES To report the natural history of MPS-IIID in 2 siblings described by Kaplan and Wolfe in 1987 and to study the phenoty...
متن کاملp53 in 3-D.
-Since 1975, 191 patients with Hodgkin's disease have been treated with a combination of chlorambucil, vinblastine, procarbazine and prednisolone (ChlVPP). Complete remission rates were 73% for previously untreated patients, 910% for patients previously treated with radiotherapy and 55%0 for patients previously treated with chemotherapy. In 59 patients with advanced disease who received no othe...
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ژورنال
عنوان ژورنال: Mechanical Engineering
سال: 2012
ISSN: 0025-6501,1943-5649
DOI: 10.1115/1.2012-apr-6