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Congenital insensitivity to pain with anhidrosis: a case report

Kim JS, Woo YJ, Kim GM, Kim CJ, Ma JS, Hwang TJ, Lee MC

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain...
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Clinicopathologic analysis of 124 biopsy-proven peripheral nerve diseases

Hong SM, Ha H, Suh JH, Kim KK, Khang SK, Ro JY, Park SH

We reviewed dinical, histological and ultrastructural findings of 124 cases of sural nerve biopsy specimens to delineate the trends of peripheral nerve diseases in our institute. Eighty-one were men and...
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A Case of Progressive Hypertrophic Neuropathy in Childhood with Facial Diplegia: Dejerine-Sottas Disease

Sunwoo IN, Kim JS, Chi JG, Suh YL

Due to unknown underlying biochemical disorders, the delineation of Dejerine-sottas disease has been subject to recent controversy. This is a case of a 9 year-old Korean female with the...
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Systemic mononuclear inflammatory vasculopathy associated with Sjogren's syndrome in a patient with primary biliary cirrhosis

Min JK, Park KS, Yu WJ, Lee YS, Park SM, Park SH, Cho CS, Kim HY

  • KMID: 759497
  • Korean J Intern Med.
  • 2000 Jan;15(1):89-92.
We report a 46-year-old woman with primary biliary cirrhosis (PBC) presenting with Sjogren's syndrome and systemic mononuclear inflammatory vasculopathy. Biopsy specimens of sural nerve showed findings consistent with vasculitic ...
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Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion

Kim SM, Chung KW, Choi BO, Yoon ES, Choi JY, Park KD, Sunwoo IN

  • KMID: 755662
  • Exp Mol Med.
  • 2004 Feb;36(1):28-35.
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited disorder characterized by recurrent pressure palsies. Most HNPP patients have a 1.5 mb deletion in chromosome 17p11.2-p12....
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