Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases
Kingma, Sandra D.K, Neven, Julie, Bael, An, Meuwissen, Marije E.C, van den Akker, Machiel
Published in Orphanet journal of rare diseases (14.09.2023)
Published in Orphanet journal of rare diseases (14.09.2023)
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Journal Article
MPS I: Early diagnosis, bone disease and treatment, where are we now?
Kingma, Sandra D. K., Jonckheere, An I.
Published in Journal of inherited metabolic disease (01.11.2021)
Published in Journal of inherited metabolic disease (01.11.2021)
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Journal Article
Ischemia-Reperfusion and Neonatal Intestinal Injury
Young, Christopher M., MD, Kingma, Sandra D.K., MD, Neu, Josef, MD
Published in The Journal of pediatrics (01.02.2011)
Published in The Journal of pediatrics (01.02.2011)
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Journal Article
Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease
Kingma, Sandra D.K, Wagemans, Tom, IJlst, Lodewijk, Bronckers, Antonius L.J.J, van Kuppevelt, Toin H, Everts, Vincent, Wijburg, Frits A, van Vlies, Naomi
Published in Bone (New York, N.Y.) (01.07.2016)
Published in Bone (New York, N.Y.) (01.07.2016)
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Journal Article
Lactobacillus johnsonii N6.2 stimulates the innate immune response through Toll-like receptor 9 in Caco-2 cells and increases intestinal crypt Paneth cell number in biobreeding diabetes-prone rats
Kingma, Sandra D K, Li, Nan, Sun, Frank, Valladares, Ricardo B, Neu, Joe, Lorca, Graciela L
Published in The Journal of nutrition (01.06.2011)
Published in The Journal of nutrition (01.06.2011)
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Journal Article
Metachromatic leukodystrophy: To screen or not to screen?
Jonckheere, An I., Kingma, Sandra D.K., Eyskens, François, Bordon, Victoria, Jansen, Anna C.
Published in European journal of paediatric neurology (01.09.2023)
Published in European journal of paediatric neurology (01.09.2023)
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Journal Article
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
Grünert, Sarah C., Gautschi, Matthias, Baker, Joshua, Boyer, Monica, Burlina, Alberto, Casswall, Thomas, Corpeleijn, Willemijn, Çıki, Kismet, Cotter, Melanie, Crushell, Ellen, Derks, Terry G.J., Haas, Dorothea, Kilavuz, Sebile, Kingma, Sandra D.K., Korman, Stanley H., Kozek, Anne, de Laet, Corinne, Mundy, Helen, Nassogne, Marie Cecile, Quintero, Victor, Rossi, Alessandro, Spenger, Johannes, Spiegel, Ronen, Stephenne, Xavier, Stojkov, Darko, Tal, Galit, Veiga-da Cunha, Maria, Wortmann, Saskia B.
Published in Molecular genetics and metabolism (01.06.2024)
Published in Molecular genetics and metabolism (01.06.2024)
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Journal Article
Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?
Kingma, Sandra D. K., Ceulemans, Berten, Kenis, Sandra, Jonckheere, An I.
Published in JIMD reports (01.05.2021)
Published in JIMD reports (01.05.2021)
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Journal Article
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
Kingma, Sandra D K, Langereis, Eveline J, de Klerk, Clasine M, Zoetekouw, Lida, Wagemans, Tom, IJlst, Lodewijk, Wanders, Ronald J A, Wijburg, Frits A, van Vlies, Naomi
Published in Orphanet journal of rare diseases (09.07.2013)
Published in Orphanet journal of rare diseases (09.07.2013)
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Journal Article
The intestinal microbiome: relationship to type 1 diabetes
Neu, Josef, Lorca, Graciela, Kingma, Sandra D K, Triplett, Eric W
Published in Endocrinology and metabolism clinics of North America (01.09.2010)
Published in Endocrinology and metabolism clinics of North America (01.09.2010)
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Journal Article
Natural history of three late-diagnosed classic Galactosemia patients
Quelhas, Dulce, Kingma, Sandra D.K., Jonckheere, An I., Smeets-Peels, Claudia S., Gomes, Daniel Costa, Duro, José, Oliveira, Anabela, Matthijs, Gert, Steinbusch, Laura K.M., Jaeken, Jaak, Rivera, Isabel, Rubio-Gozalbo, Estela
Published in Molecular genetics and metabolism reports (01.03.2024)
Published in Molecular genetics and metabolism reports (01.03.2024)
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Journal Article
Hepatosplanchnic Ischemia/Reperfusion is a Major Determinant of Lung Vascular Injury After Aortic Surgery
Cornet, Alexander D., M.D. M.Sc, Kingma, Sandra D.K., M.Sc, Trof, Ronald J., M.D., M.Sc, Wisselink, Willem, M.D. Ph.D, Groeneveld, A.B. Johan, M.D., Ph.D
Published in The Journal of surgical research (01.11.2009)
Published in The Journal of surgical research (01.11.2009)
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Journal Article
Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model
Kingma, Sandra D. K., Wagemans, Tom, IJlst, Lodewijk, Seppen, Jurgen, Gijbels, Marion J. J., Wijburg, Frits A., van Vlies, Naomi
Published in JIMD Reports, Volume 23 (01.01.2015)
Published in JIMD Reports, Volume 23 (01.01.2015)
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Book Chapter
Journal Article
Small atrial septal defect associated with heart failure in an infant with a marginal left ventricle
Kingma, Sandra D K, Rammeloo, Lukas A, Sojak, Vladimir, Hruda, Jaroslav
Published in Clinics and practice (04.07.2012)
Published in Clinics and practice (04.07.2012)
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Journal Article
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Panis, Bianca, Vos, E Naomi, Barić, Ivo, Bosch, Annet M, Brouwers, Martijn C G J, Burlina, Alberto, Cassiman, David, Coman, David J, Couce, María L, Das, Anibh M, Demirbas, Didem, Empain, Aurélie, Gautschi, Matthias, Grafakou, Olga, Grunewald, Stephanie, Kingma, Sandra D K, Knerr, Ina, Leão-Teles, Elisa, Möslinger, Dorothea, Murphy, Elaine, Õunap, Katrin, Pané, Adriana, Paci, Sabrina, Parini, Rossella, Rivera, Isabel A, Scholl-Bürgi, Sabine, Schwartz, Ida V D, Sdogou, Triantafyllia, Shakerdi, Loai A, Skouma, Anastasia, Stepien, Karolina M, Treacy, Eileen P, Waisbren, Susan, Berry, Gerard T, Rubio-Gozalbo, M Estela
Published in Frontiers in genetics (15.02.2024)
Published in Frontiers in genetics (15.02.2024)
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Journal Article
The European reference network for metabolic diseases
Parenti, Giancarlo, Fecarotta, Simona, Alagia, Marianna, Attaianese, Federica, Verde, Alessandra, Tarallo, Antonietta, Gragnaniello, Vincenza, Ziagaki, Athanasia, Guimaraes, Maria Jose, Aguiar, Patricio, Hahn, Andreas, Azevedo, Olga, Donati, Maria Alice, Kiec-Wilk, Beata, Scarpa, Maurizio, van der Beek, Nadine A. M. E, Del Toro Riera, Mireja, Germain, Dominique P, Huidekoper, Hidde, van den Hout, Johanna M. P, van der Ploeg, Ans T, Baric, Ivo, Batzios, Spyros, Belmatoug, Nadia, Bordugo, Andrea, Bosch, Annet M, Brassier, Anais, Burlina, Alberto, Cassiman, David, Chabrol, Brigitte, Chronopoulou, Efstathia, Couce-Pico, Maria Luz, Darin, Niklas, Das, Anibh M, Debray, Francois G, Deegan, Patrick, de Abreu Freire Diogo Matos, Luisa M, De Las Heras Montero, Javier, Di Rocco, Maja, Dobbelaere, Dries, Eyskens, Francois, Ferreira, Ana, Gaspar, Ana M, Gasperini, Serena, López, Antonio González-Meneses, Grosso, Salvatore, Guffon-Fouilhoux, Nathalie, Hennermann, Julia, Hiwot, Tarekegn G, Jones, Simon, Kingma, Sandra, Komninaka, Veroniki, Martín-Hernández, Elena, Martins, Esmeralda, Miclea, Diana, Pfliegler, György, Rodrigues, Esmeralda, Rokicki, Dariusz, Roland, Dominique, Rutsch, Frank, Salviati, Alessandro, Tournev, Ivailo, Ullrich, Kurt, van Hasselt, Peter M, Vijay, Suresh, Weinhold, Natalie, Witters, Peter, Zeman, Jiri
Published in Orphanet journal of rare diseases (01.11.2024)
Published in Orphanet journal of rare diseases (01.11.2024)
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Journal Article
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
Parenti, Giancarlo, Fecarotta, Simona, Alagia, Marianna, Attaianese, Federica, Verde, Alessandra, Tarallo, Antonietta, Gragnaniello, Vincenza, Ziagaki, Athanasia, Guimaraes, Maria Jose', Aguiar, Patricio, Hahn, Andreas, Azevedo, Olga, Donati, Maria Alice, Kiec-Wilk, Beata, Scarpa, Maurizio, van der Beek, Nadine A M E, Del Toro Riera, Mireja, Germain, Dominique P, Huidekoper, Hidde, van den Hout, Johanna M P, van der Ploeg, Ans T
Published in Orphanet journal of rare diseases (01.11.2024)
Published in Orphanet journal of rare diseases (01.11.2024)
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Journal Article