Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.
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Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and managementAtypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis.Disease specific therapies in leukodystrophies and leukoencephalopathies.Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous XanthomatosisCerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report.Cytochromes p450: roles in diseasesUpdate on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry methodPsychiatric manifestations in cerebrotendinous xanthomatosis.A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns."Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.Summarizing phenotype evolution patterns from report cases.Emerging treatments for pediatric leukodystrophies.Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families.The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.Effects of bile acids on neurological function and disease.Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion.Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey.Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).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.Nationwide survey on cerebrotendinous xanthomatosis in Japan.Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.
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Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 04 June 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
@cs
name
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.
@en
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.
@nl
type
label
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.
@en
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.
@nl
prefLabel
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.
@en
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.
@nl
P2093
P1476
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey
@en
P2093
A Ares-Luque
B Pilo-de-la-Fuente
J R Lorenzo
M J Sobrido
S Muñiz-Pérez
P304
P356
10.1111/J.1468-1331.2011.03439.X
P577
2011-06-04T00:00:00Z