Journal
NEUROIMAGING CLINICS OF NORTH AMERICA
Volume 25, Issue 1, Pages 31-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.nic.2014.09.004
Keywords
Brain imaging; MRI; Magnetic resonance; Inborn errors of metabolism; Genetics; Metabolic disorder
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In 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.
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