Cargando…

Cerebrotendinous xanthomatosis: A report of 3 cases

Detalles Bibliográficos
Autores principales:	Saussy, Katharine, Jain, Neelesh, Murina, Andrea
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7695813/ https://www.ncbi.nlm.nih.gov/pubmed/33294542 http://dx.doi.org/10.1016/j.jdcr.2020.10.012

Ejemplares similares

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

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

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

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

Cerebrotendinous xanthomatosis
por: Muniaswamy, Mahalakshmi, et al.
Publicado: (2016)

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

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

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)

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

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

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

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

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

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

CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report
por: Li, Zhao-Ran, et al.
Publicado: (2022)

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

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review
por: Cao, Lan-Xiao, et al.
Publicado: (2020)

A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene
por: Ghoshouni, Hamed, et al.
Publicado: (2023)

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

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

Bilateral Xanthomas of Tendoachilles in A Patient of Cerebrotendinous Xanthomatosis - A Rare Case Report and Review of Literature
por: Sastri, VRK, et al.
Publicado: (2014)

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

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)

Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review
por: Wejjakul, Witchuree, et al.
Publicado: (2017)

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

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

Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene
por: Sasamura, Akari, et al.
Publicado: (2018)

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

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

2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis
por: Tian, Di, et al.
Publicado: (2011)

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

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

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

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

Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report
por: Chang, Yue-Yue, et al.
Publicado: (2022)

A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis
por: Schneider, Hauke, et al.
Publicado: (2010)

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis
por: Rashvand, Zahra, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_9k5au04d0bila0gjhl01l7cble