Resultados de procura - van Hasselt Peter

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

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Glucose transporter type 1 deficiency syndrome and the ketogenic diet por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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) por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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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