Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
about
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and managementFrameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan originTwo novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosisFine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigreesBiosynthesis of bile acids in cerebrotendinous xanthomatosis. Relationship of bile acid pool sizes and synthesis rates to hydroxylations at C-12, C-25, and C-26Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis.Cerebrotendinous xanthomatosis--the spectrum of imaging findings.Cerebrotendinous xanthomatosis: clinical and MRI study (a case report).Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.Autosomal recessive cerebellar ataxias.Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis.Case of cerebrotendinous xanthomatosis. I: Unusual ophthalmic features.Diagnosis of inherited metabolic disorders affecting the nervous systemLowered fasting chenodeoxycholic acid correlated with the decrease of fibroblast growth factor 19 in Chinese subjects with impaired fasting glucoseGenetic connections between neurological disorders and cholesterol metabolismA useful multi-analyte blood test for cerebrotendinous xanthomatosis.Recent advances in the development of farnesoid X receptor agonistsImpact of physiological levels of chenodeoxycholic acid supplementation on intestinal and hepatic bile acid and cholesterol metabolism in Cyp7a1-deficient mice.Disease specific therapies in leukodystrophies and leukoencephalopathies.Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy.The eye and liver disorders.Differential diagnosis in patients with suspected bile acid synthesis defects.Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristicsLate-onset spinal form xanthomatosis without brain lesion: a case reportCerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature.Electrophysiological studies in cerebrotendinous xanthomatosisUpdate on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry methodMechanisms of disease: Inborn errors of bile acid synthesis.Psychiatric manifestations in cerebrotendinous xanthomatosis.Inherited metabolic disorders and cerebral infarction.A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns.Disorders of bile acid synthesis.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.Treatment of Smith-Lemli-Opitz syndrome and other sterol disordersThe clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis.Treatable causes of cerebellar ataxia.Emerging treatments for pediatric leukodystrophies.Cerebrotendinous xanthomatosis: a rare genetic disorder.
P2860
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P2860
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
description
1984 nî lūn-bûn
@nan
1984 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1984 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
name
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
@ast
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
@en
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
@nl
type
label
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
@ast
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
@en
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
@nl
prefLabel
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
@ast
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
@en
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
@nl
P2093
P3181
P1476
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
@en
P2093
P304
P3181
P356
10.1056/NEJM198412273112601
P407
P577
1984-12-27T00:00:00Z