Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
about
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression.Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey.Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum.Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene.
P2860
Q38890032-43634E25-EBA2-409A-8E47-59FE463F2168Q41619241-D9C8AD8A-209A-4DED-A030-FC257580065FQ47591810-DAA52FF1-CCC3-4DE0-BC67-EF7FCF0C6F14Q47905176-4AB875CE-DBAE-40BC-A5A6-88E9E481F724Q48033256-E3B49F9B-F73E-4CC6-BAB6-4CAE84D5DFCDQ48312809-0B0A45E8-0E4B-42D6-86A5-945F3F9B5476Q48376444-D4F62BB4-D772-4432-B178-A2DA96446F51
P2860
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
@en
type
label
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
@en
prefLabel
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
@en
P2093
P2860
P1476
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis
@en
P2093
Alessandro Magni
Andrea Mignarri
Antonio Federico
Maria Teresa Dotti
Marina Del Puppo
P2860
P2888
P356
10.1007/S10545-015-9873-1
P577
2015-07-08T00:00:00Z
P5875
P6179
1049282982