Works matching DE "CEREBROTENDINOUS xanthomatosis"
Results: 33
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series.
- Published in:
- 2017
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- Publication type:
- journal article
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.
- Published in:
- 2014
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- Publication type:
- Letter
The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis.
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- Journal of Physiology, 2017, v. 595, n. 11, p. 3607, doi. 10.1113/JP273670
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- Publication type:
- Article
Small Bowel Obstruction due to Intestinal Xanthomatosis.
- Published in:
- 2015
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- Publication type:
- Case Study
Cerebrotendinous xanthomatosis without skin changes: Diagnostic delay and confirmation by genetic analysis.
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- Indian Pediatrics, 2016, v. 53, n. 10, p. 917, doi. 10.1007/s13312-016-0960-7
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- Publication type:
- Article
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report.
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- Annals of Rehabilitation Medicine, 2017, v. 41, n. 2, p. 313, doi. 10.5535/arm.2017.41.2.313
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- Publication type:
- Article
A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.
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- Tremor & Other Hyperkinetic Movements, 2018, p. 1, doi. 10.7916/D8X07Q2N
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- Publication type:
- Article
Nota Clínica: Trastorno bipolar en xantomatosis cerebrotendinosa: a propósito de un caso.
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- Actas Espanolas de Psiquiatria, 2021, v. 49, n. 2, p. 85
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- Publication type:
- Article
Cerebral Xanthoma in a Peron's Tree Frog ( Litoria peronii).
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- Journal of Herpetological Medicine & Surgery, 2015, v. 25, n. 1/2, p. 21, doi. 10.5818/1529-9651-25.1.21
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- Publication type:
- Article
Cerebrotendinous xanthomatosis.
- Published in:
- 2016
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- Publication type:
- Letter to the Editor
Four New Cases of Progressive Ataxia and Palatal Tremor (PAPT) and a Literature Review.
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- Clinical & Translational Neuroscience, 2023, v. 7, n. 4, p. 1, doi. 10.3390/ctn7040032
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- Publication type:
- Article
Adult-Onset Treatable Leukodystrophy: Cerebrotendinous Xanthomatosis.
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- Neuropsychiatric Investigation, 2022, v. 60, n. 4, p. 106, doi. 10.5152/NeuropsychiatricInvest.2022.22008
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- Publication type:
- Article
Bilateral xanthomas of tendoachilles in a patient of cerebro-tendinous xanthomatosis: A case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Late-onset spinal form xanthomatosis without brain lesion: a case report.
- Published in:
- 2016
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- Publication type:
- journal article
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
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- Journal of Neurology, 2018, v. 265, n. 2, p. 388, doi. 10.1007/s00415-017-8711-9
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- Publication type:
- Article
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.
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- Journal of Neurology, 2017, v. 264, n. 5, p. 862, doi. 10.1007/s00415-017-8440-0
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- Publication type:
- Article
Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies.
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- Journal of Neurology, 2016, v. 263, n. 12, p. 2361, doi. 10.1007/s00415-016-8131-2
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- Publication type:
- Article
Psychiatric signs and symptoms in treatable inborn errors of metabolism.
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- Journal of Neurology, 2014, v. 261, p. 559, doi. 10.1007/s00415-014-7396-6
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- Publication type:
- Article
Cerebrotendinous xanthomatosis with a novel mutation in CYP27A1 gene in a Turkish patient.
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- Annals of Medical of Research, 2020, v. 27, n. 8, p. 2200, doi. 10.5455/annalsmedres.2020.03.254
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- Publication type:
- Article
LOCALIZED XANTHOMATOSIS OF ORAL MUCOSA IN A PATIENT WITH CUSHING'S DISEASE.
- Published in:
- 2013
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- Publication type:
- Case Study
Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination.
- Published in:
- 2016
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- Publication type:
- journal article
Cerebrotendinous Xanthomatosis: The Effectiveness of High-Dose Piracetam for the Treatment of Cerebellar and Sensorial Ataxia.
- Published in:
- 2014
- By:
- Publication type:
- Report
A Multiplex Phytosterol Assay Utilizing Gas Chromatography-Mass Spectrometry for Diagnosis of Inherited Lipid Storage Disorders.
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- Annals of Laboratory Medicine, 2019, v. 39, n. 4, p. 411, doi. 10.3343/alm.2019.39.4.411
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- Publication type:
- Article
Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline.
- Published in:
- 2018
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- Publication type:
- Case Study
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.
- Published in:
- 2016
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- Publication type:
- journal article
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.
- Published in:
- 2016
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- Publication type:
- journal article
Glioblastoma multiforme versus pleomorphic xanthoastrocytoma with anaplastic features in the pathological diagnosis: a case report.
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- Diagnostic Pathology, 2016, v. 11, p. 1, doi. 10.1186/s13000-016-0514-2
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- Publication type:
- Article
Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Physiopathology of necrobiotic xanthogranuloma with monoclonal gammopathy.
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- Journal of Internal Medicine, 2014, v. 276, n. 3, p. 269, doi. 10.1111/joim.12195
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- Publication type:
- Article
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.
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- Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1609, doi. 10.1007/s11011-017-0047-8
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- Publication type:
- Article
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.
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- Metabolic Brain Disease, 2017, v. 32, n. 2, p. 311, doi. 10.1007/s11011-017-9971-x
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- Publication type:
- Article
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.
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- Metabolic Brain Disease, 2016, v. 31, n. 5, p. 1185, doi. 10.1007/s11011-016-9841-y
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- Publication type:
- Article