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内部出版物
Wiley电子期刊(1)
Elsevier电子期刊(3)
在“
Elsevier电子期刊
”中,
命中:
3
条,耗时:小于0.01 秒
在所有数据库中总计命中:
4
条
1.
Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases
作者:
Fanny Mochel
;
Nadè
;
ge Boildieu
;
Julie Barritault
;
Catherine Sarret
;
Eleonore
Eymard
-
Pierre
;
Franç
;
ois Seguin
;
Raphael Schiffmann
;
Odile Boespflug-Tanguy
关键词:
NMR spectroscopy
;
N-acetylaspartylglutamate
;
Biomarker
;
Leukodystrophy
;
Pelizaeus–
;
Merzbacher disease
刊名:Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease
出版年:2010
2.
Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)
作者:
Imen Dorboz
;
Eleonore
Eymard
-
Pierre
;
Rym Kefi
;
Sonia Abdelhak
;
Najoua Miladi
;
Odile Boespflug-Tanguy
;
the Tunisian Leukodystrophy Study Group
关键词:
ARSA
;
Arylsulfatase A
;
Metachromatic leukodystrophy
;
Mutation analysis
;
Cerebroside sulfate sulfatase
;
Lysosome
刊名:Journal of the Neurological Sciences
出版年:2009
3.
Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene
作者:
Eleonore
Eymard
-
Pierre
;
Gaetan Lesca
;
S
;
ra Dollet
;
Filippo Maria Santorelli
;
Matteo di Capua
;
Enrico Bertini
;
Odile Boespflug-Tanguy
刊名:The American Journal of Human Genetics
出版年:2002
1
按检索点细分(3)
作者(3)
按出版年细分(3)
2010年(1)
2009年(1)
2002年(1)
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