Amsterdam Gastroenterology Endocrinology Metabolism
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Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (APOE) Variants
Ferreira, E. A., Oud, M. M., van der Crabben, S. N., Versloot, M., Goorden, S. M. I., van Karnebeek, C. D. M., Kroon, J. & Langeveld, M., 1 Mar 2025, In: Genes. 16, 3, 289.Research output: Contribution to journal › Article › Academic › peer-review
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Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports
Ferreira, E. A., Hofstede, F. C., Haijes-Siepel, H. A., Lichtenbelt, K. D., Pistorius, L., de Sain-van der Velden, M. G. M., Nikkels, P. G. J., Lequin, M. H., de Vries, L. S., van der Crabben, S. N. & van Hasselt, P. M., 1 Jan 2024, In: Genetics in medicine open. 2, 101853.Research output: Contribution to journal › Article › Academic › peer-review
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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
Undiagnosed Diseases Network, 6 Apr 2023, In: American journal of human genetics. 110, 4, p. 663-680 18 p.Research output: Contribution to journal › Article › Academic › peer-review
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