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Mind the B2: Life-Threatening Neonatal Complications of a Strict Vegan Diet during Pregnancy.
Published in:
Neonatology (16617800), 2022, v. 119, n. 6, p. 777, doi. 10.1159/000526334
By:
- Jaeger, Bregje;
- Corpeleijn, Willemijn;
- Dijsselhof, Monique;
- Goorden, Susan;
- Haverkamp, Jorien;
- Langeveld, Mirjam;
- Waterham, Hans;
- Westerbeek, Elisabeth;
- Bosch, Annet M.
Publication type:
Article
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
Published in:
2016
By:
- Hollak, Carla E. M.;
- Biegstraaten, Marieke;
- Baumgartner, Matthias R.;
- Belmatoug, Nadia;
- Bembi, Bruno;
- Bosch, Annet;
- Brouwers, Martijn;
- Dekker, Hanka;
- Dobbelaere, Dries;
- Engelen, Marc;
- Groenendijk, Marike C.;
- Lachmann, Robin;
- Langendonk, Janneke G.;
- Langeveld, Mirjam;
- Linthorst, Gabor;
- Morava, Eva;
- Bwee Tien Poll-The;
- Rahman, Shamima;
- Rubio-Gozalbo, M. Estela;
- Spiekerkoetter, Ute
Publication type:
journal article
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5784, doi. 10.3390/ijms21165784
By:
- van der Veen, Sanne J.;
- Vlietstra, Wytze J.;
- van Dussen, Laura;
- van Kuilenburg, André B.P.;
- Dijkgraaf, Marcel G. W.;
- Lenders, Malte;
- Brand, Eva;
- Wanner, Christoph;
- Hughes, Derralynn;
- Elliott, Perry M.;
- Hollak, Carla E. M.;
- Langeveld, Mirjam
Publication type:
Article
Type I Gaucher Disease, a Glycosphingolipid Storage Disorder, Is Associated with Insulin Resistance.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 845, doi. 10.1210/jc.2007-1702
By:
- Langeveld, Mirjam;
- Ghauharali, Karen J. M.;
- Sauerwein, Hans P.;
- Ackermans, Mariette T.;
- Groener, Johanna E. M.;
- Hollak, Carla E. M.;
- Aerts, Johannes M.;
- Serlie, Mireille J.
Publication type:
Article
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02735-0
By:
- van den Heuvel, Lieke M.;
- Kater-Kuipers, Adriana;
- van Dijk, Tessa;
- Crefcoeur, Loek L.;
- Visser, Gepke;
- Langeveld, Mirjam;
- Henneman, Lidewij
Publication type:
Article
Riboflavin transporter deficiency in young adults unmasked by dietary changes.
Published in:
2024
By:
- Jaeger, Bregje;
- Langeveld, Mirjam;
- Brunkhorst, Robert;
- Distelmaier, Felix;
- Pop, Ana;
- Wolf, Nicole I.;
- Bosch, Annet M.
Publication type:
Case Study
Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report.
Published in:
2022
By:
- Stolwijk, Nina N.;
- Langeveld, Mirjam;
- Jacobs, Bart A. W.;
- Vogt, Liffert;
- Haverkamp, Jorien A.;
- Ferdinandusse, Sacha;
- Hollak, Carla E. M.
Publication type:
Case Study
Neonatal carnitine concentrations in relation to gestational age and weight.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 56, n. 1, p. 95, doi. 10.1002/jmd2.12162
By:
- Crefcoeur, Loek L.;
- Sain‐van der Velden, Monique G. M.;
- Ferdinandusse, Sacha;
- Langeveld, Mirjam;
- Maase, Rose;
- Vaz, Frédéric M.;
- Visser, Gepke;
- Wanders, Ronald J.A.;
- Wijburg, Frits A.;
- Verschoof‐Puite, Rendelien K.;
- Schielen, Peter C. J. I.
Publication type:
Article
Education and training in adult metabolic medicine: Results of an international survey.
Published in:
Journal of Inherited Metabolic Disease Reports, 2019, v. 49, n. 1, p. 63, doi. 10.1002/jmd2.12044
By:
- Sechi, Annalisa;
- Fabbro, Elisa;
- Langeveld, Mirjam;
- Tullio, Annarita;
- Lachmann, Robin;
- Mochel, Fanny
Publication type:
Article
The Mini Mental State Examination does not accurately screen for objective cognitive impairment in Fabry Disease.
Published in:
Journal of Inherited Metabolic Disease Reports, 2019, v. 48, n. 1, p. 53, doi. 10.1002/jmd2.12036
By:
- Körver, Simon;
- van de Schraaf, Sara A. J.;
- Geurtsen, Gert J.;
- Hollak, Carla E. M.;
- van Schaik, Ivo N.;
- Langeveld, Mirjam
Publication type:
Article
Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.
Published in:
2022
By:
- Eskes, Eline C. B.;
- Beishuizen, Cathrien R. L.;
- Corazolla, Eleonore M.;
- van Middelaar, Tessa;
- Brands, Marion M. M. G.;
- Dekker, Hanka;
- van de Mheen, Erica;
- Langeveld, Mirjam;
- Hollak, Carla E. M.;
- Sjouke, Barbara
Publication type:
journal article
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).
Published in:
Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1206106
By:
- Ferreira, Elise A.;
- Buijs, Mark J. N.;
- Wijngaard, Robin;
- Daams, Joost G.;
- Datema, Mareen R.;
- Engelen, Marc;
- van Karnebeek, Clara D. M.;
- Oud, Machteld M.;
- Vaz, Frédéric M.;
- Wamelink, Mirjam M. C.;
- van der Crabben, Saskia N.;
- Langeveld, Mirjam
Publication type:
Article
Registries for orphan drugs: generating evidence or marketing tools?
Published in:
2020
By:
- Hollak, Carla E. M.;
- Sirrs, Sandra;
- van den Berg, Sibren;
- van der Wel, Vincent;
- Langeveld, Mirjam;
- Dekker, Hanka;
- Lachmann, Robin;
- de Visser, Saco J.
Publication type:
journal article
Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain.
Published in:
2020
By:
- Körver, Simon;
- Geurtsen, Gert J.;
- Hollak, Carla E. M.;
- van Schaik, Ivo N.;
- Longo, Maria G. F.;
- Lima, Marjana R.;
- Vedolin, Leonardo;
- Dijkgraaf, Marcel G. W.;
- Langeveld, Mirjam
Publication type:
journal article
Oral Chaperone Therapy Migalastat for the Treatment of Fabry Disease: Potentials and Pitfalls of Real‐World Data.
Published in:
Clinical Pharmacology & Therapeutics, 2019, v. 106, n. 5, p. 925, doi. 10.1002/cpt.1536
By:
- Körver, Simon;
- Feldt‐Rasmussen, Ulla;
- Svarstad, Einar;
- Kantola, Ilkka;
- Langeveld, Mirjam
Publication type:
Article
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
By:
- Wortmann, Saskia B.;
- Oud, Machteld M.;
- Alders, Mariëlle;
- Coene, Karlien L. M.;
- van der Crabben, Saskia N.;
- Feichtinger, René G.;
- Garanto, Alejandro;
- Hoischen, Alex;
- Langeveld, Mirjam;
- Lefeber, Dirk;
- Mayr, Johannes A.;
- Ockeloen, Charlotte W.;
- Prokisch, Holger;
- Rodenburg, Richard;
- Waterham, Hans R.;
- Wevers, Ron A.;
- van de Warrenburg, Bart P. C.;
- Willemsen, Michel A. A. P.;
- Wolf, Nicole I.;
- Vissers, Lisenka E. L. M.
Publication type:
Article
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 386, doi. 10.1002/jimd.12475
By:
- Crefcoeur, Loek L.;
- Visser, Gepke;
- Ferdinandusse, Sacha;
- Wijburg, Frits A.;
- Langeveld, Mirjam;
- Sjouke, Barbara
Publication type:
Article
Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 969, doi. 10.1002/jimd.12266
By:
- Knottnerus, Suzan J. G.;
- Bleeker, Jeannette C.;
- Ferdinandusse, Sacha;
- Houtkooper, Riekelt H.;
- Langeveld, Mirjam;
- Nederveen, Aart J.;
- Strijkers, Gustav J.;
- Visser, Gepke;
- Wanders, Ronald J. A.;
- Wijburg, Frits A.;
- Boekholdt, S. Matthijs;
- Bakermans, Adrianus J.
Publication type:
Article
Cognitive functioning and depressive symptoms in Fabry disease: A follow‐up study.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1070, doi. 10.1002/jimd.12271
By:
- Körver, Simon;
- Geurtsen, Gert J.;
- Hollak, Carla E. M.;
- Schaik, Ivo N.;
- Longo, Maria G. F.;
- Lima, Marjana R.;
- Dijkgraaf, Marcel G. W.;
- Langeveld, Mirjam
Publication type:
Article
Nutritional ketosis improves exercise metabolism in patients with very long‐chain acyl‐CoA dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 787, doi. 10.1002/jimd.12217
By:
- Bleeker, Jeannette C.;
- Visser, Gepke;
- Clarke, Kieran;
- Ferdinandusse, Sacha;
- Haan, Ferdinand H.;
- Houtkooper, Riekelt H.;
- IJlst, Lodewijk;
- Kok, Irene L.;
- Langeveld, Mirjam;
- Pol, W. Ludo;
- Sain‐van der Velden, Monique G. M.;
- Sibeijn‐Kuiper, Anita;
- Takken, Tim;
- Wanders, Ronald J. A.;
- Weeghel, Michel;
- Wijburg, Frits A.;
- Woude, Luc H.;
- Wüst, Rob C. I.;
- Cox, Pete J.;
- Jeneson, Jeroen A. L.
Publication type:
Article
Developments in the treatment of Fabry disease.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 908, doi. 10.1002/jimd.12228
By:
- Veen, Sanne J.;
- Hollak, Carla E. M.;
- Kuilenburg, André B. P.;
- Langeveld, Mirjam
Publication type:
Article
Retrospective evaluation of the Dutch pre‐newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 424, doi. 10.1002/jimd.12193
By:
- Haijes, Hanneke A.;
- Molema, Femke;
- Langeveld, Mirjam;
- Janssen, Mirian C.;
- Bosch, Annet M.;
- Spronsen, Francjan;
- Mulder, Margot F.;
- Verhoeven‐Duif, Nanda M.;
- Jans, Judith J.M.;
- Ploeg, Ans T.;
- Wagenmakers, Margreet A.;
- Rubio‐Gozalbo, M. Estela;
- Brouwers, Martijn C. G. J.;
- Vries, Maaike C.;
- Langendonk, Janneke G.;
- Williams, Monique;
- Hasselt, Peter M.
Publication type:
Article
Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 414, doi. 10.1002/jimd.12075
By:
- Bleeker, Jeannette C.;
- Kok, Irene L.;
- Ferdinandusse, Sacha;
- van der Pol, W. Ludo;
- Cuppen, Inge;
- Bosch, Annet M.;
- Langeveld, Mirjam;
- Derks, Terry G. J.;
- Williams, Monique;
- de Vries, Maaike;
- Mulder, Margot F.;
- Gozalbo, Estela R.;
- de Sain‐van der Velden, Monique G. M.;
- Rennings, Alexander J.;
- Schielen, Peter J. C. I.;
- Dekkers, Eugenie;
- Houtkooper, Riekelt H.;
- Waterham, Hans R.;
- Pras‐Raves, Mia L.;
- Wanders, Ronald J. A.
Publication type:
Article
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1247, doi. 10.1007/s10545-018-0212-1
By:
- Oussoren, Esmee;
- Mathijssen, Irene M. J.;
- Wagenmakers, Margreet;
- Verdijk, Rob M.;
- Bredero‐Boelhouwer, Hansje H.;
- van Veelen‐Vincent, Marie‐Lise C.;
- van der Meijden, Jan C.;
- van den Hout, Johanna M. P.;
- Ruijter, George J. G.;
- van der Ploeg, Ans T.;
- Langeveld, Mirjam
Publication type:
Article
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1247, doi. 10.1007/s10545-018-0212-1
By:
- Oussoren, Esmee;
- Mathijssen, Irene M. J.;
- Wagenmakers, Margreet;
- Verdijk, Rob M.;
- Bredero-Boelhouwer, Hansje H.;
- van Veelen-Vincent, Marie-Lise C.;
- van der Meijden, Jan C.;
- van den Hout, Johanna M. P.;
- Ruijter, George J. G.;
- van der Ploeg, Ans T.;
- Langeveld, Mirjam
Publication type:
Article
Mucolipidosis type III, a series of adult patients.
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 5, p. 839, doi. 10.1007/s10545-018-0186-z
By:
- Oussoren, Esmee;
- van Eerd, David;
- Murphy, Elaine;
- Lachmann, Robin;
- van der Meijden, Jan C.;
- Hoefsloot, Lies H.;
- Verdijk, Rob;
- Ruijter, George J. G.;
- Maas, Mario;
- Hollak, Carla E. M.;
- Langendonk, Janneke G.;
- van der Ploeg, Ans T.;
- Langeveld, Mirjam
Publication type:
Article
The role of the clinician in the multi-omics era: are you ready?
Published in:
Journal of Inherited Metabolic Disease, 2018, v. 41, n. 3, p. 571, doi. 10.1007/s10545-017-0128-1
By:
- van Karnebeek, Clara D. M.;
- Wortmann, Saskia B.;
- Tarailo-Graovac, Maja;
- Langeveld, Mirjam;
- Ferreira, Carlos R.;
- van de Kamp, Jiddeke M.;
- Hollak, Carla E.;
- Wasserman, Wyeth W.;
- Waterham, Hans R.;
- Wevers, Ron A.;
- Haack, Tobias B.;
- Wanders, Ronald J.A.;
- Boycott, Kym M.
Publication type:
Article
Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03371-y
By:
- Corazolla, Eleonore M.;
- Eskes, Eline C. B.;
- Veldwijk, Jorien;
- Brands, Marion M. M. G.;
- Dekker, Hanka;
- van de Mheen, Erica;
- Langeveld, Mirjam;
- Hollak, Carla E. M.;
- Sjouke, Barbara
Publication type:
Article
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03358-9
By:
- Klouwer, Femke C.C.;
- Roosendaal, Stefan D.;
- Hollak, Carla E. M.;
- Langeveld, Mirjam;
- Poll-The, Bwee Tien;
- Sorge, Arlette J. van;
- Wolf, Nicole I.;
- Knaap, Marjo S. van der;
- Engelen, Marc
Publication type:
Article
Type I Gaucher, Disease, a Glycosphingolipid Storage Disorder, Is Associated with Insulin Resistance.
Published in:
Diabetes, 2007, v. 56, p. A341
By:
- Langeveld, Mirjam;
- Serlie, Mireille J.;
- Ackermans, Mariette T.;
- Ghauharali, J. M.;
- Groener, Johanna E.;
- Hollak, Carla E.;
- Aerts, Johannes M.;
- Sauerwein, Hans P.
Publication type:
Article
ECG Changes during Adult Life in Fabry Disease: Results from a Large Longitudinal Cohort Study.
Published in:
Diagnostics (2075-4418), 2023, v. 13, n. 3, p. 354, doi. 10.3390/diagnostics13030354
By:
- El Sayed, Mohamed;
- Postema, Pieter G.;
- Datema, Mareen;
- van Dussen, Laura;
- Kors, Jan A.;
- ter Haar, Cato C.;
- Bleijendaal, Hidde;
- Galenkamp, Henrike;
- van den Born, Bert-Jan H.;
- Hollak, Carla E. M.;
- Langeveld, Mirjam
Publication type:
Article
Hepatocellular Adenomas and Carcinoma in Asymptomatic, Non-Cirrhotic Type III Glycogen Storage Disease.
Published in:
Journal of Gastrointestinal & Liver Diseases, 2015, v. 24, n. 4, p. 515, doi. 10.15403/jgld.2014.1121.244.had
By:
- Oterdoom, Leendert H.;
- Verweij, K. Evelyne;
- Biermann, Katharina;
- Langeveld, Mirjam;
- van Buuren, Henk R.
Publication type:
Article
Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37320-0
By:
- Körver, Simon;
- Geurtsen, Gert J.;
- Hollak, Carla E. M.;
- van Schaik, Ivo N.;
- Longo, Maria G. F.;
- Lima, Marjana R.;
- Vedolin, Leonardo;
- Dijkgraaf, Marcel G. W.;
- Langeveld, Mirjam
Publication type:
Article
Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 17, p. 9752, doi. 10.3390/ijms25179752
By:
- Veldman, Bram C. F.;
- Schoenmakers, Daphne H.;
- van Dussen, Laura;
- Datema, Mareen R.;
- Langeveld, Mirjam
Publication type:
Article
The long-term effect of energy restricted diets for treating obesity.
Published in:
Obesity (19307381), 2015, v. 23, n. 8, p. 1529, doi. 10.1002/oby.21146
By:
- Langeveld, Mirjam;
- DeVries, J. Hans
Publication type:
Article

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