Associated Papers
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Hörster F et al.
Journal of Inherited Metabolic Disease, 2021
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.
Dempsey-Nunez L et al.
Molecular Genetics and Metabolism, 2012
Neurocognitive phenotype of isolated methylmalonic acidemia.
O'Shea CJ et al.
Pediatrics, 2012
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
Lerner-Ellis JP et al.
Human Mutation, 2004
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