Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

Benzer Materyaller

• Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
  Yazar:: Wang, Junling, ve diğerleri
  Baskı/Yayın Bilgisi: (2021)
• HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase
  Yazar:: Ferdinandusse, Sacha, ve diğerleri
  Baskı/Yayın Bilgisi: (2013)
• Treatable Leigh-like encephalopathy presenting in adolescence
  Yazar:: Fassone, Elisa, ve diğerleri
  Baskı/Yayın Bilgisi: (2013)
• Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis
  Yazar:: Yamada, Kenichiro, ve diğerleri
  Baskı/Yayın Bilgisi: (2014)
• Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh’s disease
  Yazar:: Stiles, Ashlee R., ve diğerleri
  Baskı/Yayın Bilgisi: (2015)