期刊
SEMINARS IN PEDIATRIC NEUROLOGY
卷 19, 期 2, 页码 51-56出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.spen.2012.03.004
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资金
- Wellcome Trust [084980/Z/08/Z] Funding Source: Wellcome Trust
- National Institute for Health Research [NF-SI-0509-10011] Funding Source: researchfish
- Medical Research Council Funding Source: Medline
- Wellcome Trust [096919Z/11/Z, 084980/Z/08/Z, 096919] Funding Source: Medline
Neurodegeneration with brain iron accumulation (NBIA) encompasses at least 7 genetically distinct disorders, and additional causative genes likely await identification. Recent advances have included the characterization of new genes associated with new subtypes of NBIA and also highlighted the phenotypic heterogeneity of this class of disorders. Herein, we summarize current concepts of NBIA pathogenesis and discuss important gaps in current knowledge, outlining key questions in the field. Semin Pediatr Neurol 19:51-56 Published by Elsevier Inc.
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