Terttu Suormala

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

David Coelho, Jaeseung Kim, Isabelle R. Miousse et al. · Nature Genetics · 2012 · 233 citations

Vitamin Nutrition, Genetic Disorder, Genetics +10

Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)

Friederike Hörster, Matthias R. Baumgartner, Caroline Viardot et al. · Pediatric Research · 2007 · 230 citations · Full text

Urological Research, Medicine, Genetics +7

Spectrum of mutations in<i>MMACHC</i>, allelic expression, and evidence for genotypeâphenotype correlations

Jordan Lerner‐Ellis, Natascia Anastasio, Junhui Liu et al. · Human Mutation · 2009 · 207 citations

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Sarah C. Grünert, S. Müllerleile, Linda De Silva et al. · Orphanet Journal of Rare Diseases · 2013 · 185 citations · Full text

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

Frank Rutsch, Susann Gailus, Isabelle R. Miousse et al. · Nature Genetics · 2009 · 179 citations

Vitamin Nutrition, Biochemistry, Bioanalysis +8