Wijburg, Frits A.

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Waterham, H. R., Wijburg, F. A., Hennekam, R. C. M., Vreken, P., Poll-The, B. T., Dorland, L., Duran, M., Jira, P. E., Smeitink, J. A. M., Wevers, R. A., et al. (1998) · The American Journal of Human Genetics

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 296

Disorders of mitochondrial fatty acyl‐CoA β‐oxidation

Wanders, R. J. A., Vreken, P., den Boer, M. E. J., Wijburg, F. A., Van Gennip, A. H., & IJlst, L. (1999) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 257

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

Wijburg, F. A., Węgrzyn, G., Burton, B. K., & Tylki‐Szymańska, A. (2013) · Acta Paediatrica

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 129

Hepatocellular Carcinoma in Hereditary Tyrosinemia Type I Despite 2-(2 Nitro-4-3 Trifluoro- Methylbenzoyl)-1, 3-Cyclohexanedione Treatment

van Spronsen, F. J., Bijleveld, C. M. A., van Maldegem, B. T., & Wijburg, F. A. (2005) · Journal of Pediatric Gastroenterology and Nutrition

Metabolism and Genetic DisordersHepatocellular Carcinoma Treatment and Prognosis

Cited by 92

Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann‐Pick disease

Brinkman, J., Wijburg, F. A., Hollak, C. E., Groener, J. E., Verhoek, M., Scheij, S., Aten, J., Boot, R. G., & Aerts, J. M. (2005) · Journal of Inherited Metabolic Disease

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 90

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Barendsen, R. W., Dijkstra, I. M. E., Visser, W. F., Alders, M., Bliek, J., Boelen, A., Bouva, M. J., van der Crabben, S. N., Elsinghorst, E., van Gorp, A. G. M., et al. (2020) · Frontiers in Cell and Developmental Biology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 65