Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region

✍ Scribed by Etsuo Naito; Michinori Ito; Ichiro Yokota; Takahiko Saijo; Junko Matsuda; Yukiko Ogawa; Seiko Kitamura; Eiko Takada; Yoshihiro Horii; Yasuhiro Kuroda

• Book ID: 117617928
• Publisher: Elsevier Science
• Year: 2002
• Tongue: English
• Weight: 123 KB
• Volume: 1588
• Category: Article
• ISSN: 0925-4439
• DOI: 10.1016/s0925-4439(02)00142-4