スポンサーリンク
Department Of Neurology Peking University First Hospital | 論文
- Clinical and biochemical studies on Chinese patients with methylmalonic acidumia
- Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening
- Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy
- Genetic studies on SURF1 mutations in Chinese patients with mitochondrial encephalopathy
- A Clinical Survey of 65 Patients with Leigh Syndrome
- Current Status of Research on Inborn Errors of Metabolism in China
- Alpers syndrome with prominent white matter changes
- Reduction expression of thrombomodulin and endothelial cell nitric oxide synthase in dermatomyositis
- The overlap of corticobasal degeneration and Alzheimer changes : An autopsy case
- Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A
- Clincial and pathological study of distal motor neuropathy with N88S mutation in BSCL2
- Hereditary sensory and autonomic neuropathy type I in a Chinese family : British C133W mutation exists in the Chinese
- Mutations in mitochondrially encoded complex？ enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
- Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
- Epilepsy in children with methylmalonic acidemia : Electroclinical features and prognosis
- Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations