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  • Naoki Harada, Eli Hatchwell, +14 authors N Matsumoto
  • Medicine, Biology
  • Journal of medical genetics
  • 2004 (First Publication: 1 February 2004)
  • Mental retardation (MR) occurs in 2–3% of the general population, and more than half of MR patients are categorised as idiopathic—that is, the cause is unknown.1,2 Patients with idiopathic MR areContinue Reading
  • Hikorou Matsui, Yosiji Takahashi, +7 authors Akira Yoshioka
  • Medicine
  • Pathophysiology of Haemostasis and Thrombosis
  • 2001
  • We report the arthroscopic treatment of pigmented villonodular synovitis (PVNS) in a 13-year-old Japanese boy with congenital partial deficiency of plasminogen activator inhibitor-1 (PAI-1). He wasContinue Reading
  • Toshiyuki Fukao, A Kodama, +8 authors Naotugu Kondo
  • Medicine, Biology
  • Clinical genetics
  • 1996 (First Publication: 28 June 2008)
  • Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inherited metabolic disorder of isoleucine and ketone body catabolism. We report the cases of two siblings who showed clinically mildContinue Reading