Učitavanje...

A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy

We present a case of beta-propeller protein-associated neurodegeneration, a form of neurodegeneration with brain iron accumulation. The patient harbored a novel mutation in the WDR45 gene. A detailed video and description of her clinical condition are provided. Her movement disorder phenomenology wa...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:J Mov Disord
Glavni autori: Lim, Shen-Yang, Tan, Ai Huey, Ahmad-Annuar, Azlina, Schneider, Susanne A., Bee, Ping Chong, Lim, Jia Lun, Ramli, Norlisah, Idris, Mohamad Imran
Format: Artigo
Jezik:Inglês
Izdano: The Korean Movement Disorder Society 2018
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5990906/
https://ncbi.nlm.nih.gov/pubmed/29860786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14802/jmd.17082
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!