Publications by Sean D Froese

Publications by authors named "Sean D Froese"

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Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

Friederike Hörster Ali Tunç Tuncel Florian Gleich Tanja Plessl Sean D Froese

J Inherit Metab Dis

January 2021

Introduction: Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult.

Method: Cross-sectional analysis of data from the European Registry and Network for Intoxication type Metabolic Diseases (Chafea no. December 1, 2010).

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