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JAMA Neurology|April 24, 2013
Improvement of white matter changes on neuroimaging modalities after stem cell transplant in metachromatic leukodystrophyMartje E van Egmond, Petra J W Pouwels, Jaap-Jan Boelens, et al.
American Journal of Medical Genetics. Part A|May 3, 2021
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiencyBram C F Veldman, Willemijn F E Kuper, Marc Lilien, et al.
Molecular Genetics and Metabolism|April 9, 2013
Supplementation with a powdered blend of PUFAs normalizes DHA and AA levels in patients with PKUJudith J Jans, Monique G M de Sain-van der Velden, Peter M van Hasselt, et al.
The Journal of Pediatrics|November 19, 2013
Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinoneFatiha Bendadi, Tom J de Koning, Gepke Visser, et al.
Journal of Cellular Physiology|December 19, 2025
Exploring the Cell Biological and Functional Effects of the First Disease Associated KCC1 Genetic VariantMeye Bloothooft, Jiahui Huang, Mira Hamze, et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|December 2, 2019
Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell TransplantationBrigitte T A van den Broek, Michelle B van Egmond-Ebbeling, Jens A Achterberg, et al.
Pediatrics|April 3, 2008
Prevention of vitamin K deficiency bleeding in breastfed infants: lessons from the Dutch and Danish biliary atresia registriesPeter M van Hasselt, Tom J de Koning, Nina Kvist, et al.
Biochimica Et Biophysica Acta. General Subjects|November 18, 2019
Metabolic fingerprinting reveals extensive consequences of GLS hyperactivityLynne Rumping, Mia L Pras-Raves, Johan Gerrits, et al.
European Journal of Human Genetics : EJHG|July 20, 2007
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndromeKlara Flipsen-ten Berg, Peter M van Hasselt, Marc J Eleveld, et al.
Pharmaceutics|December 28, 2021
Internalization and Transport of PEGylated Lipid-Based Mixed Micelles across Caco-2 Cells Mediated by Scavenger Receptor B1Xiangjie Su, Mercedes Ramírez-Escudero, Feilong Sun, et al.
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