Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Overview of attention for article published in Orphanet Journal of Rare Diseases, October 2015

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PMM2 deficiency

Cited by user AmourFund on 12 Mar 2018

PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2.

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