Ngā hua rapu - van Hasselt Peter

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

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

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

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

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

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

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

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

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

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

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

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

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

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Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion mā 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

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Hurdles in treating Hurler disease: potential routes to achieve a “real” cure mā 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.

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Long-term effect of hematopoietic cell transplantation on systemic inflammation in patients with mucopolysaccharidoses mā 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

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Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle mā 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

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Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio mā 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.

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Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) – Case series mā 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

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The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course mā 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.

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