… 2 Vanhanen SL. Neuroradiological and neurophysiological findings in infantile neuronal …
3 Vanhanen SL, Raininko R, Santavuori P. Early differential diagnosis of infantile neuronal …

A deficiency of palmitoyl-protein thioesterase (PPT) was recently shown to be the primary
defect in infantile neuronal ceroid lipofuscinosis (INCL). The available enzyme assays are …

The purpose of this study was to demonstrate the course of infantile neuronal ceroid-lipofuscinosis
with brain magnetic resonance imaging (MRI) in children aged 3 months to 11 years. …

Our purpose was to develop a method of measuring the size of the brain stem by routine MRI
and to determine brain stem dimensions in a normal population. We examined 174 subjects…

We studied 30 patients with juvenile neuronal ceroid lipofuscinosis (JNCL). The patients (aged
6–25 years) and 43 age-matched healthy volunteers underwent MRI. After visual …

Infantile neuronal ceroid-lipofuscinosis (infantile CLN1) is a progressive and uniformly fatal
lysosomal storage disease of the nervous system. The purpose of this study was to compare …

Postmortem MRI was carried out on the formalin-fixed brains of 14 patients with juvenile (JNCL)
and two with late infantile neuronal ceroid lipofuscinosis, one of variant and the other of …

… In the Discussion section, we compare neu rophysiological results with MR I and single
photon emission tomography (SPEOT) findings published previously by us (Vanhanen et al. 1094…

The purpose of this study was to correlate postmortem magnetic resonance imaging (MRI)
with histopathologic findings in brains of a series of autopsied patients with infantile neuronal …

Objective: To study the effect of allogeneic hematopoietic stem cell transplantation (SCT) on
the clinical course of infantile neuronal ceroid lipofuscinosis (INCL), a lysosomal storage …