Concepedia

Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria

Yanping Wei, Yan Zhou, Jing Yuan, Jun Ni, Min Qian, Liying Cui, Bin Peng

Journal of Neurology · 2019 · 15 citations · 3 references

DOI

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References

3

Update on transcobalamin deficiency: clinical presentation, treatment and outcome

Yannis Trakadis, Ahmed Alfares, Olaf A. Bodamer et al. · Journal of Inherited Metabolic Disease · 2013 · 81 citations

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Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency

James M. Powers, David S. Rosenblatt, Robert E. Schmidt et al. · Annals of Neurology · 2001 · 60 citations · Full text

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Newborn screening for methylmalonic acidurias—Optimization by statistical parameter combination

Martin Lindner, S. Ho, Stefan Kölker et al. · Journal of Inherited Metabolic Disease · 2008 · 29 citations

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