Rare Diseases
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Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria. Wei Yanping et al. Journal of neurology 2019 Oct 266(10) 2434-2439 |
[Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China]. Liu Y et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2018 Jun 56(6) 414-420 |
Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations. Zhou Wei et al. Frontiers in genetics 2018 9726 |