Spinal cerebrotendinous xanthomatosis: A case report and literature review
Molecular Genetics and Metabolism Reports, 2021 Background: Classic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms.
Isis Atallah +5 more
doaj +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
Сerebrotendinous xanthomatosis
Анналы клинической и экспериментальной неврологии, 2017 Cerebrotendinous xanthomatosis is a rare autosomal recessivedisorder of cholesterol and bile acid metabolism associated withthe sterol 27-hydroxylase gene CYP27A1.
G. E. Rudenskaya, E. Yu. Zakharova
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Cerebrotendinous Xanthomatosis
The Primary Care Companion For CNS DisordersCarson BE, De Jesus O.
europepmc +2 more sources
Prevalência de prescrição de medicamentos off-label num hospital universitário : proposta de monitorização de indicadores de efetividade e segurança [PDF]
, 2016 Monografia realizada no âmbito da unidade de Estágio Curricular do Mestrado Integrado em Ciências Farmacêuticas, apresentada à Faculdade de Farmácia da Universidade de CoimbraO uso off-label de medicamentos consiste na sua utilização intencional fora das
Parreira, Mariana Daniela Mendes
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The Influence of Schwann Cell Metabolism and Dysfunction on Axon Maintenance
Glia, Volume 73, Issue 12, Page 2338-2352, December 2025.Main Points Sensory neurons depend on Schwann cells for survival. Schwann cells provide energy for axons dunng rapid firing or after injury. Dysregulated metabolism in Schwann cells can lead to the production of neurotoxic and axon degeneration. ABSTRACT Schwann cells are the glial cells in the peripheral nervous system responsible for the production ...
Rose Follis +2 more
wiley +1 more source
Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
Journal of Lipid Research, 1982 Serum 26-hydroxycholesterol was quantitated by isotope dilution-mass spectrometry in normal individuals and in patients with cerebrotendinous xanthomatosis. In the normal individuals, the concentration of 26-hydroxycholesterol in serum ranged from 4.3 to
N B Javitt, E Kok, B Cohen, S Burstein
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Self-induced water intoxication : a case report [PDF]
, 1988 CITATION: Emsley, R. A. & Taljaard, J. J. F. 1988. Self-induced water intoxication : a case report. South African Medical Journal, 74:80-81.The original publication is available at http://www.samj.org.zaA 19-year-old female schizophrenic with self ...
Emsley, R. A., Taljaard, J. J. F.
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Charge-tagging liquid chromatography–mass spectrometry methodology targeting oxysterol diastereoisomers [PDF]
, 2017 The introduction of a hydroxy group to the cholesterol skeleton introduces not only the possibility for positional isomers but also diastereoisomers, where two or more isomers have different configurations at one or more of the stereocentres but are not ...
Abdel-Khalik +30 more
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Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations [PDF]
, 2010 Background Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder. Recent studies show that brain damage in CTX patients extends beyond the abnormalities observed on conventional magnetic resonance imaging (MRI).
Chang, Chiung-Chih +9 more
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