Abstract
Two siblings with molybdenum cofactor deficiency are presented. They showed clinical, biochemical and neuroradiological features very similar to those of the few previously described cases. Difficulties in diagnosis are emphasised.
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Hansen, L.K., Wulff, K., Dorche, C. et al. Molybdenum cofactor deficiency in two siblings: Diagnostic difficulties. Eur J Pediatr 152, 662–664 (1993). https://doi.org/10.1007/BF01955243
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DOI: https://doi.org/10.1007/BF01955243