Recent Publications on Xanthomatosis Cerebrotendinous: |  |
[Cerebrotendinous xanthomatosis. Hereditary lipid storage disease leading to bilateral swelling of Achilles tendon]
Cerebrotendinous xanthomatosis is a rare hereditary lipid storage disease...
Direct Link | 24th October, 2008
| Universitatsklinik fur Orthopadie, Medizinische Universitat, Graz.
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Cerebrotendinous xanthomatosis: neuropathological findings.
Cerebrotendinous xanthomatosis is an inherited autosomal recessive lipid...
Direct Link | 22nd October, 2008
| Division of Neurology, Virgen del Puerto Hospital, Paraje de Valcorchero
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Highly sensitive analysis of sterol profiles in human serum by LC-ESI-MS/MS.
We have developed a highly sensitive and specific method for the analysis...
Direct Link | 7th October, 2008
| Center for Collaborative Research, Tokyo Medical University, Kasumigaura
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Leukoencephalopathies associated with inborn errors of metabolism in adults.
The discovery of a leukoencephalopathy is a frequent situation in...
Direct Link | 10th September, 2008
| Federation of Nervous System Diseases, Hopital de la Salpetriere and
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Teaching neuroimage: cerebrotendinous xanthomatosis.
This study investigated the antiatherogenic activity and the chemical...
Direct Link | 23rd July, 2008
| Department of Neurology, Massachusetts General Hospital, Brigham and
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The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.
The discovery of a leukoencephalopathy is a frequent situation in...
Direct Link | 1st March, 2008
| FESEN, Laboratorio de Neuroquimica, Buenos Aires, Argentina.
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Effectors of rapid homeostatic responses of endoplasmic reticulum cholesterol and 3-hydroxy-3-methylglutaryl-CoA reductase.
The cholesterol content of the endoplasmic reticulum (ER) and the activity...
Direct Link | 15th February, 2008
| Department of Pathology, Rush University Medical Center, 1653 W. Congress
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| Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia.
| 9th January, 2008
| Department of Medicine, K.J. Somaiya Medical College and Research Centre,
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Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress.
Cerebrotendinous xanthomatosis is an autosomal recessive disorder of bile...
Direct Link | 14th November, 2007
| Department of Pathology, University of Maryland, Baltimore, Maryland, USA.
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Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D.
The CYP27A1 gene encodes a mitochondrial enzyme that modulates the acidic...
Direct Link | 10th October, 2007
| Department of Medicine, Medical University of South Carolina, Strom
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| Cerebrotendinous xanthomatosis: a case report.
| 13th September, 2007
| Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad,
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| Cerebrotendinous xanthomatosis in a Saudi Arabian family-genotyping and long-term follow-up.
| 1st September, 2007
| Department of Medicine, C123 Riyadh Military Hospital, PO Box 7897, Riyadh
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| Cerebrotendinous xanthomatosis with cerebellar ataxia as the chief symptom.
| 25th August, 2007
| Department of Neurology, Tokai University Tokyo Hospital.
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Rifampicin-induced CYP3A4 activation in CTX patients cannot replace chenodeoxycholic acid treatment.
Cerebrotendinous xanthomatosis (CTX) is a rare neurodegenerative disorder...
Direct Link | 10th August, 2007
| Department of Internal Medicine B and the Center for Research Prevention
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[Cerebrotendinous xanthomatosis]
HISTORY AND CLINICAL FINDINGS: A 43-year-old woman had since childhood...
Direct Link | 11th July, 2007
| Klinik und Poliklinik fur Neurologie, Universitat zu Koln, Koln, Germany.
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