Kam Ming Au

Summary

Country: China

Publications

  1. ncbi request reprint A novel mutation (C271F) in the Notch3 gene in a Chinese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Kam Ming Au
    Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, China
    Clin Chim Acta 376:229-32. 2007
  2. ncbi request reprint Mitochondrial DNA deletion in a girl with Fanconi's syndrome
    Kam Ming Au
    Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong SAR, China
    Pediatr Nephrol 22:136-40. 2007
  3. ncbi request reprint Gene symbol: NOTCH3. Disease: CADASIL
    K M Au
    Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong
    Hum Genet 119:677. 2006
  4. ncbi request reprint Diagnostic value of pleural fluid adenosine deaminase activity in tuberculous pleurisy
    Mo Lung Chen
    Department of Pathology, Princess Margaret Hospital, Lai King Hill Road, Hong Kong, China
    Clin Chim Acta 341:101-7. 2004
  5. ncbi request reprint Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity
    Angel On-Kei Chan
    Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China
    Clin Chim Acta 351:155-9. 2005
  6. ncbi request reprint Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia
    Wing Tat Poon
    Clin Chim Acta 364:361-2. 2006

Collaborators

  • Ching Wan Lam
  • Wai Cho Yu
  • H L Li
  • Wing Tat Poon
  • Sui Fan Tong
  • Yan Wo Chan
  • Angel On-Kei Chan
  • Mo Lung Chen
  • Kwok Yin Chan
  • Chun Bong Chow
  • Kwok Yung
  • Yuet Ping Yuen
  • Cheng Man Tung
  • Chi Tim Hung
  • Kin Pong Ng
  • Chi Chung Shek
  • Fuk Yip Kong
  • Albert Yan Wo Chan

Detail Information

Publications6

  1. ncbi request reprint A novel mutation (C271F) in the Notch3 gene in a Chinese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    Kam Ming Au
    Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, China
    Clin Chim Acta 376:229-32. 2007
    ..Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset hereditary condition caused by mutations in the Notch3 gene. A Chinese man was studied...
  2. ncbi request reprint Mitochondrial DNA deletion in a girl with Fanconi's syndrome
    Kam Ming Au
    Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong SAR, China
    Pediatr Nephrol 22:136-40. 2007
    ..3 kb in both peripheral blood and renal tissue. Mitochondrial diseases have heterogeneous clinical phenotypes; mutation analysis has proved to be an effective tool in confirming the diagnosis...
  3. ncbi request reprint Gene symbol: NOTCH3. Disease: CADASIL
    K M Au
    Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong
    Hum Genet 119:677. 2006
  4. ncbi request reprint Diagnostic value of pleural fluid adenosine deaminase activity in tuberculous pleurisy
    Mo Lung Chen
    Department of Pathology, Princess Margaret Hospital, Lai King Hill Road, Hong Kong, China
    Clin Chim Acta 341:101-7. 2004
    ..We investigated the use of adenosine deaminase (ADA) activity in tuberculous pleuritis diagnosis...
  5. ncbi request reprint Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity
    Angel On-Kei Chan
    Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China
    Clin Chim Acta 351:155-9. 2005
    ..Butyrylcholinesterase (BCHE) deficiency is characterized by prolonged apnea after the use of certain muscle relaxants with the genetic defect lying in the BCHE gene...
  6. ncbi request reprint Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia
    Wing Tat Poon
    Clin Chim Acta 364:361-2. 2006