Abstract
We describe 6 infants (5 Belgian, 1 Moroccan; 3 males: 3 females) who presented from birth with severe hypotonia and convulsions; 3 of them had concomitant liver dysfunction of a varying degree of severity; dysmorphic features were present in the majority of these infants.
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© 2003 Springer Science+Business Media New York
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Francois, J., Eyskens, M., Lefevere, M. (2003). Disturbances of Valine Metabolism in Patients with Peroxisomal Biogenesis Disorders. In: Roels, F., Baes, M., De Bie, S. (eds) Peroxisomal Disorders and Regulation of Genes. Advances in Experimental Medicine and Biology, vol 544. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-9072-3_11
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DOI: https://doi.org/10.1007/978-1-4419-9072-3_11
Publisher Name: Springer, Boston, MA
Print ISBN: 978-1-4613-4782-8
Online ISBN: 978-1-4419-9072-3
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