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

Lignende værker

• Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome
  af: Wang, Junling, et al.
  Udgivet: (2021)
• HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase
  af: Ferdinandusse, Sacha, et al.
  Udgivet: (2013)
• Treatable Leigh-like encephalopathy presenting in adolescence
  af: Fassone, Elisa, et al.
  Udgivet: (2013)
• Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis
  af: Yamada, Kenichiro, et al.
  Udgivet: (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
  af: Stiles, Ashlee R., et al.
  Udgivet: (2015)