Cargando…

Cerebrotendinous xanthomatosis

Detalles Bibliográficos
Autores principales:	Muniaswamy, Mahalakshmi, Rengasamy, Madhu, Aravamuthan, Ramesh, Krishnasamy, Manoharan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2016
Materias:	Letters to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976429/ https://www.ncbi.nlm.nih.gov/pubmed/27559524 http://dx.doi.org/10.4103/2229-5178.185484

Ejemplares similares

Cerebrotendinous xanthomatosis
por: Vadapalli, Satyadev
Publicado: (2013)

Cerebrotendinous xanthomatosis: a treatable hereditary neuro‐metabolic disease
por: de Cerqueira, Ana Claudia Rodrigues, et al.
Publicado: (2010)

Cerebrotendinous Xanthomatosis: A Moroccan Case Report and Review of Literature
por: Balkhadir, Hind, et al.
Publicado: (2021)

Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood
por: Degos, Bertrand, et al.
Publicado: (2016)

Case Report: Cerebrotendinous xanthomatosis
por: Karandikar, Amit A, et al.
Publicado: (2009)

Psychiatric manifestations in cerebrotendinous xanthomatosis
por: Fraidakis, M J
Publicado: (2013)

A Preventable Ataxia: Cerebrotendinous Xanthomatosis
por: Shaji, Bhagya, et al.
Publicado: (2019)

Cerebrotendinous xanthomatosis - A case report
por: Parry, Arshed Hussain, et al.
Publicado: (2019)

Cerebrotendinous Xanthomatosis with Nodular-hypertrophy of the Lumbosacral Roots
por: Hashimoto, Tomoyo, et al.
Publicado: (2018)

Cerebrotendinous xanthomatosis: A report of 3 cases
por: Saussy, Katharine, et al.
Publicado: (2020)

Cerebrotendinous xanthomatosis and infertility: A case report
por: Karimi, Narges, et al.
Publicado: (2022)

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis
por: Pramparo, Tiziano, et al.
Publicado: (2023)

Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis
por: Chen, Shu-Fang, et al.
Publicado: (2011)

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis
por: Tao, Qing-Qing, et al.
Publicado: (2019)

Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis
por: Miyamoto, Miyuki, et al.
Publicado: (2019)

Cerebrotendinous xanthomatosis‐associated diarrhea and response to chenodeoxycholic acid treatment
por: Brass, Eric P., et al.
Publicado: (2020)

Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid
por: Islam, Mahjabin, et al.
Publicado: (2021)

Spinal cerebrotendinous xanthomatosis: A case report and literature review
por: Atallah, Isis, et al.
Publicado: (2021)

Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings
por: Guenzel, Adam J., et al.
Publicado: (2021)

Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment
por: Nóbrega, Paulo Ribeiro, et al.
Publicado: (2022)

Pathophysiology and Treatment of Lipid Abnormalities in Cerebrotendinous Xanthomatosis: An Integrative Review
por: Ribeiro, Rodrigo Mariano, et al.
Publicado: (2023)

Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report
por: Yoon, Jung Yoon, et al.
Publicado: (2017)

Achilles swelling and ataxia in an adolescent: A case report of cerebrotendinous xanthomatosis()
por: Sahli, Hind, et al.
Publicado: (2022)

Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis
por: Höflinger, Philip, et al.
Publicado: (2021)

Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation
por: Mahadevan, Nivedhan, et al.
Publicado: (2023)

A rare case of cerebrotendinous xanthomatosis with typical clinical & radiological features
por: Sengupta, Ananya, et al.
Publicado: (2022)

Characterization of Postprandial Bile Acid Profiles and Glucose Metabolism in Cerebrotendinous Xanthomatosis
por: Majait, Soumia, et al.
Publicado: (2023)

Cerebrotendinous Xanthomatosis: A Rare Etiology of the “Hot-Cross Bun” Sign
por: Rani, Divya, et al.
Publicado: (2023)

Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report
por: Razi, Syed Mohd, et al.
Publicado: (2016)

Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations
por: Chang, Chiung-Chih, et al.
Publicado: (2010)

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment
por: Huidekoper, Hidde H., et al.
Publicado: (2015)

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
por: Nie, Shuke, et al.
Publicado: (2014)

Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population
por: Zhang, Shu, et al.
Publicado: (2020)

The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature
por: Ma, Chi, et al.
Publicado: (2021)

Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments
por: Koyama, Shingo, et al.
Publicado: (2021)

Cerebrotendinous Xanthomatosis: Report of two cases and a novel genetic mutation in an Indian patient
por: Bajaj, Bhupender K, et al.
Publicado: (2013)

Evaluation of the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous xanthomatosis
por: Zübarioğlu, Tanyel, et al.
Publicado: (2019)

Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis
por: Degrassi, Irene, et al.
Publicado: (2020)

Erratum to cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population
Publicado: (2021)

Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report
por: Ahmed Ghassem, Mohamed, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_fr8om6dc8dpe170q9jjiim6uta