Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00431-011-1503-9.pdf
Reference24 articles.
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3. Ciardo F, Salerno C, Curatolo P (2001) Neurologic aspects of adenylosuccinate lyase deficiency. J Child Neurol 16:301–308
4. Edery P, Chabrier S, Ceballos-Picot I et al (2003) Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. Am J Med Genet 120A:185–190
5. Gitiaux C, Ceballos-Picot I, Marie S, Valayannopoulos V, Rio M, Verrieres S et al (2009) Misleading bahavioural phenotype with adenylosuccinate lyase deficiency. Eur J Hum Genet 17:133–136
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