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Cytogenetic and Genome Research|December 16, 2014
Monosomy 20 mosaicism revealed by extensive karyotyping in blood and skin cells: case report and review of the literatureRon Hochstenbach, Pieter-Jaap Krijtenburg, Lars T van der Veken, et al.International Journal of Pediatrics|August 14, 2010
Exercise stress testing in children with metabolic or neuromuscular disordersTim Takken, Wim G Groen, Erik H Hulzebos, et al.Journal of Inherited Metabolic Disease|July 30, 2025
Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation DisordersMarit Schwantje, Marco van Brussel, Tim Takken, et al.Clinical Biochemistry|June 4, 2013
Reliable analysis of phenylalanine and tyrosine in a minimal volume of bloodHubertus C M T Prinsen, Nellie E Holwerda-Loof, Monique G M de Sain-van der Velden, et al.European Journal of Pediatrics|October 10, 2002
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1Gepke Visser, Jan Peter Rake, Philippe Labrune, et al.Journal of Inherited Metabolic Disease|August 25, 2011
Survival, but not maturation, is affected in neutrophil progenitors from GSD-1b patientsGepke Visser, Wilco de Jager, Liesbeth P Verhagen, et al.JIMD Reports|October 11, 2015
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD DeficiencyEugene Diekman, Monique de Sain-van der Velden, Hans Waterham, et al.Annals of Neurology|June 24, 2008
Yield of additional metabolic studies in neurodevelopmental disordersHannelie M Engbers, Ruud Berger, Peter van Hasselt, et al.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.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 9