Article
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.
Orphanet journal of rare diseases - 2 Sept 2014
Berendse Kevin, Engelen Marc, Linthorst Gabor E, van Trotsenburg A S Paul, Poll-The Bwee Tien
Abstract excerpt
Zellweger spectrum disorders are a group of autosomal recessive disorders characterized by impaired peroxisome functions. The clinical spectrum is broad, ranging from the classical most severe Zellweger syndrome to patients with a relatively mild phenotype. Treatment options are limited to symptomatic and supportive therapy. During routine follow-up we discovered patients with asymptomatic primary adrenal...
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