Maria Veiga‐da‐Cunha

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Gert Matthijs, Els Schollen, Els Pardon et al. · Nature Genetics · 1997 · 361 citations

Mendelian Disorder, Genetic Disorder, Phosphomannomutase Gene +9

Sequence of a putative glucose 6‐phosphate translocase, mutated in glycogen storage disease type Ib¹

Isabelle Gerin, Maria Veiga‐da‐Cunha, Younès Achouri et al. · FEBS Letters · 1997 · 214 citations · Full text

Molecular Identification of Carnosine Synthase as ATP-grasp Domain-containing Protein 1 (ATPGD1)

Jakub Drożak, Maria Veiga‐da‐Cunha, Didier Vertommen et al. · Journal of Biological Chemistry · 2010 · 202 citations · Full text

A gene encoding a putative FAD-dependent <scp>l</scp> -2-hydroxyglutarate dehydrogenase is mutated in <scp>l</scp> -2-hydroxyglutaric aciduria

Rzem Rim, Maria Veiga‐da‐Cunha, G. Noël et al. · Proceedings of the National Academy of Sciences · 2004 · 191 citations · Full text

Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor

Saskia B. Wortmann, Johan L.K. Van Hove, Terry G. J. Derks et al. · Blood · 2020 · 173 citations · Full text