Associated Papers
SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.
Li Y et al.
Gene, 2018
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
SURF1-associated Leigh syndrome: a case series and novel mutations.
Lee IC et al.
Human Mutation, 2012
[Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].
Zhang Y et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2007
Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
Yang YL et al.
Chinese Medical Journal, 2006
[Clinical and laboratory screening studies on urea cycle defects].
Yang YL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005
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