Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

por van Maldegem, Bianca T., Wanders, Ronald J. A., Wijburg, Frits A.
Publicado 2010

Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study

por Conijn, Thirsa, Haverman, Lotte, Wijburg, Frits A., De Roos, Carlijn
Publicado 2021

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

por Wijburg, Frits A, Węgrzyn, Grzegorz, Burton, Barbara K, Tylki-Szymańska, Anna
Publicado 2013

A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency

por Huidekoper, Hidde H., Visser, Gepke, Ackermans, Mariëtte T., Sauerwein, Hans P., Wijburg, Frits A.
Publicado 2010

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)

por Valstar, Marlies J, Marchal, Jan Pieter, Grootenhuis, Martha, Colland, Vivian, Wijburg, Frits A
Publicado 2011

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

por Kuiper, Gé-Ann, Meijer, Olga L. M., Langereis, Eveline J., Wijburg, Frits A.
Publicado 2018

Autonomic neuropathy in Fabry disease: a prospective study using the Autonomic Symptom Profile and cardiovascular autonomic function tests

por Biegstraaten, Marieke, van Schaik, Ivo N, Wieling, Wouter, Wijburg, Frits A, Hollak, Carla EM
Publicado 2010

Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population

por Conijn, Thirsa, van Dijke, Ivy, Haverman, Lotte, Lakeman, Phillis, Wijburg, Frits A, Henneman, Lidewij
Publicado 2021

Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach

por Crefcoeur, Loek L., Visser, Gepke, Ferdinandusse, Sacha, Wijburg, Frits A., Langeveld, Mirjam, Sjouke, Barbara
Publicado 2022

Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening

por Nijmeijer, Stephanie C. M., Conijn, Thirsa, Lakeman, Phillis, Henneman, Lidewij, Wijburg, Frits A., Haverman, Lotte
Publicado 2020

Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes

por Conijn, Thirsa, Nijmeijer, Stephanie C. M., Lakeman, Phillis, Henneman, Lidewij, Wijburg, Frits A., Haverman, Lotte
Publicado 2020

Disease and patient characteristics in NP-C patients: findings from an international disease registry

por Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Publicado 2013

Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry

por Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Publicado 2013

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients

por Vester, Marloes E.M., Visser, Gepke, Wijburg, Frits A., van Spronsen, Francjan J., Williams, Monique, van Rijn, Rick R.
Publicado 2016

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA

por Knottnerus, Suzan J. G., Nijmeijer, Stephanie C. M., IJlst, Lodewijk, te Brinke, Heleen, van Vlies, Naomi, Wijburg, Frits A.
Publicado 2017

Prevalence of symptoms in female Fabry disease patients: a case-control survey

por Bouwman, Machtelt G., Rombach, Saskia M., Schenk, Erica, Sweeb, Annelies, Wijburg, Frits A., Hollak, Carla E. M., Linthorst, Gabor E.
Publicado 2012

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

por Valstar, Marlies J., Bruggenwirth, Hennie T., Olmer, Renske, Wevers, Ron A., Verheijen, Frans W., Poorthuis, Ben J., Halley, Dicky J., Wijburg, Frits A.
Publicado 2010

“Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

por Jahic, Amir, Günther, Sven, Muschol, Nicole, Fossøy Stadheim, Barbro, Braaten, Øivind, Kjensli Hyldebrandt, Hanne, Kuiper, Gé‐Ann, Tylee, Karen, Wijburg, Frits A., Beetz, Christian
Publicado 2019

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach

por Lanar, Sally, Parker, Samantha, O’Neill, Cara, Marrel, Alexia, Arnould, Benoit, Héron, Bénédicte, Muschol, Nicole, Wijburg, Frits A., Chakrapani, Anupam, Olivier, Sophie, Aiach, Karen
Publicado 2022

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life

por Kingma, Sandra DK, Langereis, Eveline J, de Klerk, Clasine M, Zoetekouw, Lida, Wagemans, Tom, IJlst, Lodewijk, Wanders, Ronald JA, Wijburg, Frits A, van Vlies, Naomi
Publicado 2013