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 · 365 citations

Life Sciences, Genetics, Molecular Genetics +11

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 · 215 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

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 · 207 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

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, S. Goffette et al. · Proceedings of the National Academy of Sciences · 2004 · 194 citations · Full text

Life Sciences, Biochemistry, Genetics +13

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 · 180 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +10