Infantile Refsum disease is a rare inborn error of phytanic acid metabolism. It is inherited in
an autosomal recessive manner and frequently causes signs and symptoms in the neonate …

Refsum disease is a rare metabolic disorder, which is characterized by the accumulation of
phytanic acid in the blood and tissues, including the brain. A variant of this condition that …

Due to nonspecific clinical presentation, diagnosis of metabolic disorders affecting the brain
is very challenging for physicians. It is always the constellation of the clinical examination …

We report magnetic resonance (MR) imaging findings including diffusionweighted imaging
and proton MR spectroscopy findings in a patient with infantile Refsum disease. The initial …

Kiliç M, Karli-Oguz K, Haliloglu G, Topçu M, Wanders RJ, Coskun T. Conventional and
advanced MR imaging in infantile Refsum disease. Turk J Pediatr 2015; 57: 294-299. We …

Zellweger syndrome (ZS), also called cerebrohepatorenal syndrome, belongs to the same
category of disorders as neonatal adrenoleukodystrophy (NALD) and infantile Refsum …

Peroxisomes are organelles that are present in virtually all human cell types. Their diameter
varies between 0.5 and 1.5 μm. Morphologically, peroxisomes are differentiated from …

Although individual disease entities may not be frequently encountered in the practice of
general radiology, the group of (known and yet unidentified or poorly defined) …