Medical management of Genetic Disorders

Isolated methylmalonic acidemia (MUT, CblA, CblB, CblD-MMA)

BIMDG - Emergency treatment (pediatrics)

Forny et al., 2021 - European guideline of methylmalonic and propionic acidemia. Includes acute management and long-term follow-up. Review of the original 2014 protocol

Haijes et al., 2019 - A review of treatment strategies for methylmalonic and propionic acidemia.

Genereviews  - Review of diagnosis and treatment

E-IMD 


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