Semantic Scholar Open Access 2018 39 sitasi

Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature

K. E. Stige I. O. Gjerde G. Houge P. Knappskog C. Tzoulis

Lihat Sumber DOI

Abstrak

Beta‐propeller protein‐associated neurodegeneration (BPAN) is a rare disorder, which is increasingly recognized thanks to next‐generation sequencing. Due to a highly variable phenotype, patients may present to pediatrics, neurology, psychiatry, or internal medicine. It is therefore essential that physicians of different specialties are familiar with this severe and debilitating condition.

Topik & Kata Kunci

Medicine

Penulis (5)

K. E. Stige

I. O. Gjerde

G. Houge

P. Knappskog

C. Tzoulis

Format Sitasi

APA MLA BibTeX

Stige, K.E., Gjerde, I.O., Houge, G., Knappskog, P., Tzoulis, C. (2018). Beta‐propeller protein‐associated neurodegeneration: a case report and review of the literature. https://doi.org/10.1002/ccr3.1358

Akses Cepat

Lihat di Sumber doi.org/10.1002/ccr3.1358

Informasi Jurnal

Tahun Terbit: 2018
Bahasa: en
Total Sitasi: 39×
Sumber Database: Semantic Scholar
DOI: 10.1002/ccr3.1358
Akses: Open Access ✓