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Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant
Rumping, L., Wessels, M. W., Postma, A. V., van Schuppen, J., van Slegtenhorst, M. A., Saris, J. J., van Tintelen, J. P., Robertson, S. P., Alders, M., Maas, S. M. & Deprez, R. H. L., Dec 2021, In: American journal of medical genetics. Part A. 185, 12, p. 3814-3820 7 p.Research output: Contribution to journal › Article* › Academic › peer-review
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Inborn errors of enzymes in glutamate metabolism
Rumping, L., Vringer, E., Houwen, R. H. J., van Hasselt, P. M., Jans, J. J. M. & Verhoeven-Duif, N. M., 1 Mar 2020, In: Journal of inherited metabolic disease. 43, 2, p. 200-215 16 p.Research output: Contribution to journal › Review article* › Academic › peer-review
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Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity
Rumping, L., Pras-Raves, M. L., Gerrits, J., Tang, Y. F., Willemsen, M. A., Houwen, R. H. J., van Haaften, G., van Hasselt, P. M., Verhoeven-Duif, N. M. & Jans, J. J. M., Mar 2020, In: BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS. 1864, 3, 129484.Research output: Contribution to journal › Article* › Academic › peer-review
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