Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum

Beta-propeller protein-associated neurodegeneration (BPAN) is a subtype of neurodegeneration with brain iron accumulation (NBIA) that presents with childhood developmental delay (especially speech delay), occasionally associated with epileptic encephalopathy, autism, or Rett-like syndrome. The major...

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Podrobná bibliografie
Vydáno v:Mol Genet Metab Rep
Hlavní autoři: Chard, Marisa, Appendino, Juan Pablo, Bello-Espinosa, Luis E., Curtis, Colleen, Rho, Jong M., Wei, Xing-Chang, Al-Hertani, Walla
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6595096/
https://ncbi.nlm.nih.gov/pubmed/31293896
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100483
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