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New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.

Parkinsonism & related disorders - 1 Mar 2017

Vroegindeweij Lena H P, Langendonk Janneke G, Langeveld Mirjam, Hoogendoorn Mels, Kievit Anneke J A, Di Raimondo Domenico, Wilson J H Paul, Boon Agnita J W

Abstract excerpt

INTRODUCTION: The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of...

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PMID: 28012953
DOI: 10.1016/j.parkreldis.2016.12.010

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