Mihaela Pupavac

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Jean‐Louis Guéant, Céline Chéry, Abderrahim Oussalah et al. · Nature Communications · 2017 · 84 citations · Full text

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

Anita M. Quintana, Hung‐Chun Yu, Alison Brebner et al. · Human Molecular Genetics · 2017 · 62 citations · Full text

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (<i>TRIT1</i>) gene

Kristin D. Kernohan, David A. Dyment, Mihaela Pupavac et al. · Human Mutation · 2017 · 46 citations

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in<i>ZNF143</i>, Which Codes for a Transcriptional Activator

Mihaela Pupavac, David Watkins, Francis Petrella et al. · Human Mutation · 2016 · 37 citations

Genetics, Molecular Biology, Pathology +21

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia

Ma'atem Béatrice Fofou‐Caillierez, Nadir T. Mrabet, Céline Chéry et al. · Human Molecular Genetics · 2013 · 29 citations