X-linked adrenoleukodystrophy in Norway Clinical and epidemiological aspects
Year: 2016
Type: dissertation
Study design: Observational Study
Abstract: In this thesis for the degree of PhD, cand.med. Morten Andreas Horn and his coworkers have surveyed the Norwegian population of patients with X-linked adrenoleukodystrophy. Their findings contribute to our knowledge of the prevalence and incidence of X-ALD, as well as the rate of new mutations among newborns. The researchers gained new knowledge about the severity and progression of X-ALD among males and females, and describe a pattern of age-dependent penetrance. On the other hand, cases with mild phenotypes are also found, and may be more important if newborn screening for X-ALD is introduced. A separate paper describes small nerve fiber involvement in X-ALD patients, a finding not previously reported.
Author: Morten Andreas Horn
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2396537884