Sandra Kingma unpaid staff

Publications Sandra Kingma

D-glyceric aciduria due to GLYCTK mutation : disease or non-disease?

Source
Molecular Genetics and Metabolism Reports - ISSN 2214-4269-41 (2024) p. 1-3
Author(s)
    Sandra Kingma, Laura K.M. Steinbusch, Sietse M. Aukema, Margje Sinnema, Bianca Panis, Joost Nicolai, Estela Rubio-Gozalbo

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b

Source
Molecular genetics and metabolism - ISSN 1096-7192-142:2 (2024) p. 1-6
Author(s)
    Sarah C. Gruenert, Matthias Gautschi, Joshua Baker, Monica Boyer, Alberto Burlina, Thomas Casswall, Willemijn Corpeleijn, Kismet Ciki, Melanie Cotter, Ellen Crushell, Terry G.J. Derks, Dorothea Haas, Sebile Kilavuz, Sandra Kingma, Stanley H. Korman, Anne Kozek, Corinne de Laet, Helen Mundy, Marie Cecile Nassogne, Victor Quintero, Alessandro Rossi, Johannes Spenger, Ronen Spiegel, Xavier Stephenne, Darko Stojkov, Galit Tal, Maria Veiga-da Cunha, Saskia B. Wortmann

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

Source
Frontiers in genetics - ISSN 1664-8021-15 (2024) p. 1-11
Author(s)
    Bianca Panis, E. Naomi Vos, Ivo Baric, Annet M. Bosch, Martijn C.G.J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, Maria L. Couce, Anibh M. Das, Didem Demirbas, Aurelie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra Kingma, Ina Knerr, Elisa Leao-Teles, Dorothea Moeslinger, Elaine Murphy, Katrin Ounap, Adriana Pane, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Buergi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo

Natural history of three late-diagnosed classic Galactosemia patients

Source
Molecular Genetics and Metabolism Reports - ISSN 2214-4269-38 (2024) p. 1-5
Author(s)
    Dulce Quelhas, Sandra Kingma, An Jonckheere, Claudia S. Smeets-Peels, Daniel Costa Gomes, Jose Duro, Anabela Oliveira, Gert Matthijs, Laura K.M. Steinbusch, Jaak Jaeken, Isabel Rivera, Estela Rubio-Gozalbo

Imerslund-Gräsbeck syndrome : a comprehensive review of reported cases

Source
Orphanet journal of rare diseases - ISSN 1750-1172-18:1 (2023) p. 1-10
Author(s)