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JIMD Reports|July 5, 2015
Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid ExcretionImre F Schene, Viera Kalinina Ayuso, Monique de Sain-van der Velden, et al.Paediatric Anaesthesia|March 12, 2014
Perioperative complications in patients diagnosed with mucopolysaccharidosis and the impact of enzyme replacement therapy followed by hematopoietic stem cell transplantation at early ageJohanna H A M Megens, Michel de Wit, Peter M van Hasselt, et al.Neurology|June 12, 2019
Motor function impairment is an early sign of CLN3 diseaseWillemijn F E Kuper, Claudia van Alfen, Linda van Eck, et al.Iscience|January 13, 2025
Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patientsIrena J J Muffels, Richard Rodenburg, Hanneke L D Willemen, et al.Journal of Inherited Metabolic Disease|March 5, 2025
Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment EffectsEva M M Hoytema van Konijnenburg, Joline Rohof, Gautam Kok, et al.Blood Advances|August 17, 2021
Long-term effect of hematopoietic cell transplantation on systemic inflammation in patients with mucopolysaccharidosesBrigitte T A van den Broek, Caroline A Lindemans, Jaap Jan Boelens, et al.Journal of Inherited Metabolic Disease|September 13, 2017
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosisBianca M L Stelten, Olivier Bonnot, Hidde H Huidekoper, et al.European Journal of Human Genetics : EJHG|December 2, 2010
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in musclePaulien Smits, Hana Antonicka, Peter M van Hasselt, et al.Molecular Genetics and Metabolism Reports|July 14, 2021
Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case seriesMojca Zerjav Tansek, Jana Kodric, Simona Klemencic, et al.Pediatrics|March 23, 2011
Metabolic profiles in children during fastingMerel R van Veen, Peter M van Hasselt, Monique G M de Sain-van der Velden, et al.Pageof 13