Sjögren–Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous
disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase (…

Background Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of
bile acid synthesis. A diagnosis of CTX should be considered in patients with premature …

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by a deficiency of
the mitochondrial enzyme 27-sterol hydroxylase (CYP 27), due to mutations in its gene. In …

PURPOSE: To describe imaging findings and their neuropathologic correlate in patients
with cerebrotendinous xanthomatosis (CTX). MATERIALS AND METHODS: Computed …

BACKGROUND AND PURPOSE: Sjögren-Larsson syndrome (SLS) is a neurocutaneous
syndrome caused by a genetic enzyme deficiency in lipid metabolism. Our purpose was to …

An important phase in the step cycle is foot contact. When the moment of foot contact differs
from the one expected, a fast response is needed. Such a mismatch can be caused by hitting …

By direct sequencing, we have discovered a novel heteroplasmic mutation (T←C) at nucleotide
position 8993 in the mitochondrial ATPase 6 gene in a family with Leigh's syndrome. …

We report the biochemical hallmarks of tyrosine hydroxylase deficiency with emphasis on
reliable diagnostic strategies of four new cases of an inborn error of tyrosine hydroxylase (TH). …

OBJECTIVE: To evaluate validity and reproducibility of hand-held dynamometry in 11 different
muscle groups in children. DESIGN AND PATIENTS: Maximum isometric muscle strength …

Purpose. Validity and reproducibility of the Jamar dynamometer were evaluated in children
aged 4 – 11 years. Method. Hand grip strength was measured on the dominant side and non-…