Torthaí cuardaigh - van Hasselt Peter

Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders de réir Haijes, Hanneke A., Jaeken, Jaak, van Hasselt, Peter M.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Glucose transporter type 1 deficiency syndrome and the ketogenic diet de réir Schwantje, Marit, Verhagen, Lilly M., van Hasselt, Peter M., Fuchs, Sabine A.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Bilateral posterior lamellar corneal transplant surgery in an infant of 17 weeks old: Surgical challenges and the added value of intraoperative optical coherence tomography de réir Muijzer, Marc B., Kroes, Hester Y., van Hasselt, Peter M., Wisse, Robert P. L.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Hearing loss in patients with mucopolysaccharidoses‐1 and ‐6 after hematopoietic cell transplantation: A longitudinal analysis de réir van den Broek, Brigitte T. A., Smit, Adriana L., Boelens, Jaap Jan, van Hasselt, Peter M.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Towards Understanding Behaviour and Emotions of Children with CLN3 Disease (Batten Disease): Patterns, Problems and Support for Child and Family de réir Honingh, Aline K., Kruithof, Yvonne L., Kuper, Willemijn F. E., van Hasselt, Peter M., Sterkenburg, Paula S.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Intracranial bleeding due to vitamin K deficiency: advantages of using a pediatric intensive care registry de réir Visser, Désirée Y., Jansen, Nicolaas J., Ijland, Marloes M., de Koning, Tom J., van Hasselt, Peter M.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

A Mixed Micelle Formulation for Oral Delivery of Vitamin K de réir Sun, Feilong, Jaspers, Tessa C. C., van Hasselt, Peter M., Hennink, Wim E., van Nostrum, Cornelus F.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III de réir Welling, Lindsey, Marchal, Jan Pieter, van Hasselt, Peter, van der Ploeg, Ans T., Wijburg, Frits A., Boelens, Jaap Jan

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Inborn errors of enzymes in glutamate metabolism de réir Rumping, Lynne, Vringer, Esmee, Houwen, Roderick H. J., van Hasselt, Peter M., Jans, Judith J. M., Verhoeven‐Duif, Nanda M.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

High Incidence of Symptomatic Hyperammonemia in Children with Acute Lymphoblastic Leukemia Receiving Pegylated Asparaginase de réir Heitink-Pollé, Katja M J, Prinsen, Berthil H. C. M. T., de Koning, Tom J, van Hasselt, Peter M, Bierings, Marc B

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Timing of cognitive decline in CLN3 disease de réir Kuper, Willemijn F. E., van Alfen, Claudia, Rigterink, Roeliene H., Fuchs, Sabine A., van Genderen, Maria M., van Hasselt, Peter M.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Automatic quantification of lymphocyte vacuolization in peripheral blood smears of patients with Batten's disease (CLN3 disease) de réir Nonkes, Lourens J. P., Kuper, Willemijn F. E., Berrens‐Hogenbirk, Karin, Musson, Ruben E. A., van Hasselt, Peter M., Huisman, Albert

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Exercise Stress Testing in Children with Metabolic or Neuromuscular Disorders de réir Takken, Tim, Groen, Wim G., Hulzebos, Erik H., Ernsting, Cornelia G., van Hasselt, Peter M., Prinsen, Berthil H., Helders, Paul J., Visser, Gepke

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion de réir Schene, Imre F., Kalinina Ayuso, Viera, de Sain-van der Velden, Monique, van Gassen, Koen L. I., Cuppen, Inge, van Hasselt, Peter M., Visser, Gepke

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Hurdles in treating Hurler disease: potential routes to achieve a “real” cure de réir van den Broek, Brigitte T. A., van Doorn, Jaap, Hegeman, Charlotte V., Nierkens, Stefan, Lindemans, Caroline A., Verhoeven-Duif, Nanda, Boelens, Jaap Jan, van Hasselt, Peter M.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Long-term effect of hematopoietic cell transplantation on systemic inflammation in patients with mucopolysaccharidoses de réir van den Broek, Brigitte T.A., Lindemans, Caroline A., Boelens, Jaap Jan, Delemarre, Eveline M., Drylewicz, Julia, Verhoeven-Duif, Nanda, van Hasselt, Peter M., Nierkens, Stefan

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle de réir Smits, Paulien, Antonicka, Hana, van Hasselt, Peter M, Weraarpachai, Woranontee, Haller, Wolfram, Schreurs, Marieke, Venselaar, Hanka, Rodenburg, Richard J, Smeitink, Jan A, van den Heuvel, Lambert P

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio de réir Haijes, H.A., Prinsen, Hubertus C.M.T., de Sain-van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., van Hasselt, Peter M., Jans, Judith J.M.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series de réir Zerjav Tansek, Mojca, Kodric, Jana, Klemencic, Simona, Boelens, Jaap Jan, van Hasselt, Peter M., Drole Torkar, Ana, Doric, Maja, Koren, Alenka, Avcin, Simona, Battelino, Tadej, Groselj, Urh

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course de réir Kuper, Willemijn F. E., van Alfen, Claudia, van Eck, Linda, de Man, Stella A., Willemsen, Marjolein H., van Gassen, Koen L. I., Losekoot, Monique, van Hasselt, Peter M.

Faigh an téacs iomlán Faigh an téacs iomlán Faigh an téacs iomlán