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Rett syndrome in Spain: mutation analysis and clinical correlations

✍ Scribed by Eugènia Monrós; Judith Armstrong; Elena Aibar; Pilar Poo; Ignacio Canós; Mercè Pineda

Book ID
117545585
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
95 KB
Volume
23
Category
Article
ISSN
0387-7604

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## Abstract ## Objective Brain metabolism, as studied by magnetic resonance spectroscopy (MRS), has been previously shown to be abnormal in Rett syndrome (RTT). This study reports the relation of MRS findings to age, disease severity, and genotype. ## Methods Forty RTT girls (1–14 years old) and