Schutgens, R. B. H.

Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase

Hogema, B. M., Gupta, M., Senephansiri, H., Burlingame, T. G., Taylor, M., Jakobs, C., Schutgens, R. B. H., Froestl, W., Snead, O. C., Diaz-Arrastia, R., et al. (2001) · Nature Genetics

Metabolism and Genetic DisordersEpilepsy research and treatment

Cited by 157

Peroxisomal very long-chain fatty acid β-oxidation in human skin fibroblasts: activity in Zellweger syndrome and other peroxisomal disorders

Wanders, R. J. A., van Roermund, C. W. T., van Wijland, M. J. A., Heikoop, J., Schutgens, R. B. H., Schram, A. W., Tager, J. M., van den Bosch, H., Poll-Thé, B. T., Saudubray, J. M., et al. (1987) · Clinica Chimica Acta

Metabolism and Genetic DisordersGenetic and rare skin diseases.

Cited by 58

A new type of chondrodysplasia punctata associated with peroxisomal dysfunction

Poll‐The, B. T., Maroteaux, P., Narcy, C., Quetin, P., Guesnu, M., Wanders, R. J. A., Schutgens, R. B. H., & Saudubray, J. M. (1991) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 32

Delay in diagnosis of X-linked adrenoleukodystrophy

van Geel, B. M., Assies, J., Haverkort, E. B., Barth, P. G., Wanders, R. J. A., Schutgens, R. B. H., Keyser, A., & Zwetsloot, C. P. (1993) · Clinical Neurology and Neurosurgery

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 26

A misdiagnosis of X‐linked adrenoleucodystrophy in cultured chorionic villus cells by the measurement of very long chain fatty acids

Gray, R. G. F., Green, A., Cole, T., Davidson, V., Giles, M., Schutgens, R. B. H., & Wanders, R. J. A. (1995) · Prenatal Diagnosis

Metabolism and Genetic DisordersPrenatal Screening and Diagnostics

Cited by 23

Chondrodysplasia punctata with a mild clinical course

Nuoffer, J. M., Pfammatter, J. P., Spahr, A., Toplak, H., Wanders, R. J. A., Schutgens, R. B. H., & Wiesmann, U. N. (1994) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 20