Metabolic diagnostic work-up in chronic conditions
(2013) Handbook of clinical neurology : Pediatric Neurology Part III — ISBN: [978-0-7204-7200-4], 1563-1580, published
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- Abstract
- Neurological symptoms are very frequent in inborn errors of metabolism. This chapter presents a general approach to investigate inborn errors of metabolism in chronic neurological conditions. A diagnostic work-up has been designed to evaluate progressive neurological conditions with motor, cognitive, and/or behavioral signs in early infancy, late infancy to early childhood, and late childhood to adolescence. Inborn errors of metabolism associated with peripheral neuropathies, microcephaly, or macrocephaly are also reviewed.
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Nassogne, M.-C., & Hertz-Pannier, L. (2013). Metabolic diagnostic work-up in chronic conditions. In Olivier Dulac, Maryse Lassonde and Harvey B. Sarnat (ed.), Handbook of clinical neurology : Pediatric Neurology Part III (pp. 1563-1580). American Elsevier Pub Co. https://doi.org/10.1016/B978-0-444-59565-2.00026-5