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Neuroimaging Clin. N. Am. · Feb 2015
ReviewBrain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.
- Maria Gabriela Longo, Filippo Vairo, Carolina Fischinger Souza, Roberto Giugliani, and Leonardo Modesti Vedolin.
- Radiology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
- Neuroimaging Clin. N. Am.. 2015 Feb 1;25(1):31-51.
AbstractIn this article, the genotype-MR phenotype correlation of the most common or clinically important inherited metabolic diseases (IMD) in the pediatric population is reviewed. A nonsystematic search of the PubMed/Medline database of relevant studies about "genotype-phenotype correlation" in IMD was performed. Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.Copyright © 2015 Elsevier Inc. All rights reserved.
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