Cervical high-intensity intramedullary lesions in achondroplasia: Aetiology, prevalence and clinical relevance

por Brouwer, Patrick A., Lubout, Charlotte M., van Dijk, J. Marc, Vleggeert-Lankamp, Carmen L.
Publicado 2012

Communication of an Abnormal Metabolic New-Born Screening Result in The Netherlands: The Parental Perspective

por Haitjema, Sietske, Lubout, Charlotte M. A., Zijlstra, Justine H. M., Wolffenbuttel, Bruce H. R., van Spronsen, Francjan J.
Publicado 2022

Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients

por van Vliet, Kimber, Rodenburg, Iris L., van Ginkel, Willem G., Lubout, Charlotte M.A., Wolffenbuttel, Bruce H.R., van der Klauw, Melanie M., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Publicado 2019

A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient‐...

por Venema, Annieke, Peeks, Fabian, de Bruijn‐van der Veen, Marlies, de Boer, Foekje, Fokkert‐Wilts, Marieke J., Lubout, Charlotte M. A., Huskens, Bibi, Dumont, Eric, Mulkens, Sandra, Derks, Terry G. J.
Publicado 2021

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

por Hoogeveen, Irene J., Peeks, Fabian, de Boer, Foekje, Lubout, Charlotte M. A., de Koning, Tom J., te Boekhorst, Sebastiaan, Zandvoort, Robert-Jan, Burghard, Rob, van Spronsen, Francjan J., Derks, Terry G. J.
Publicado 2018

Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

por Shelkowitz, Emily, Saneto, Russell P., Al-Hertani, Walla, Lubout, Charlotte M. A., Stence, Nicholas V., Brown, Mark S., Long, Patrick, Walleigh, Diana, Nelson, Julie A., Perez, Francisco E., Shaw, Dennis W. W., Michl, Emma J., Van Hove, Johan L. K.
Publicado 2023

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

por Shelkowitz, Emily, Saneto, Russell P., Al-Hertani, Walla, Lubout, Charlotte M. A., Stence, Nicholas V., Brown, Mark S., Long, Patrick, Walleigh, Diana, Nelson, Julie A., Perez, Francisco E., Shaw, Dennis W. W., Michl, Emma J., Van Hove, Johan L. K.
Publicado 2022

Bone mineral density is within normal range in most adult phenylketonuria patients

por Lubout, Charlotte M. A., Blanco, Francisco Arrieta, Bartosiewicz, Katarzyna, Feillet, François, Gizewska, Maria, Hollak, Carla, van der Lee, Johanna H., Maillot, François, Stepien, Karolina M., Wagenmakers, Margreet A. E. M., Welsink‐Karssies, Mendy M., van Spronsen, Francjan J., Bosch, Annet M.
Publicado 2020

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprot...

por Rossi, Alessandro, Hoogeveen, Irene J., Lubout, Charlotte M. A., de Boer, Foekje, Fokkert‐Wilts, Marieke J., Rodenburg, Iris L., van Dam, Esther, Grünert, Sarah C., Martinelli, Diego, Scarpa, Maurizio, Dekker, Hanka, te Boekhorst, Sebastiaan T., van Spronsen, Francjan J., Derks, Terry G. J.
Publicado 2021

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

por Veldman, Abigail, Kiewiet, M. B. Gea, Westra, Dineke, Bosch, Annet M., Brands, Marion M. G., de Coo, René I. F. M., Derks, Terry G. J., Fuchs, Sabine A., van den Hout, Johanna. M. P., Huidekoper, Hidde H., Kluijtmans, Leo A. J., Koop, Klaas, Lubout, Charlotte M. A., Mulder, Margaretha F., Panis, Bianca, Rubio-Gozalbo, M. Estela, de Sain-van der Velden, Monique G., Schaefers, Jaqueline, Schreuder, Andrea B., Visser, Gepke, Wevers, Ron A., Wijburg, Frits A., Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J.
Publicado 2023