Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
about
The physiological basis of therapies for cerebellar ataxiasCerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.A novel diagnostic approach to patients with myoclonus.Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.Effects of bile acids on neurological function and disease.A novel frameshift mutation of malonyl-CoA decarboxylase deficiency: clinical signs and therapy response of a late-diagnosed caseSonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report.Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.Role of Cytology in Early Diagnosis of Cerebrotendinous Xanthomas.Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey.Treatable inherited rare movement disorders.Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).Erdheim-Chester disease with bilateral Achilles tendon involvement.The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis.Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.Xanthomatosis in bilateral hands mimicking rheumatoid arthritis: A case report.Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing.Detection technologies and metabolic profiling of bile acids: a comprehensive review.A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor.Vitamin D and the promoter methylation of its metabolic pathway genes in association with the risk and prognosis of tuberculosis
P2860
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P2860
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management
description
2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
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Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
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Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
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Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
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Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
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Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
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Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
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Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
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Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
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Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
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Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
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Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
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P2093
P2860
P921
P3181
P1476
Cerebrotendinous xanthomatosis ...... ons, diagnosis, and management
@en
P2093
Guiqin Chen
Xuebing Cao
Yunjian Zhang
P2860
P2888
P3181
P356
10.1186/S13023-014-0179-4
P407
P50
P5008
P577
2014-11-26T00:00:00Z
P5875
P6179
1017775175