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Elsevier电子期刊(9)
在“
Elsevier电子期刊
”中,
命中:
9
条,耗时:小于0.01 秒
在所有数据库中总计命中:
9
条
1.
Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice
作者:
Christian Brigolin
a
;
Nathan McKenty
a
;
Kirit Pindolia
a
;
b
;
Barry
Wolf
a
;
b
;
Bwolf1
@
hfhs
.org
关键词:
Biotinidase deficiency
;
Gene transcription
;
Gene expression
;
Neurological abnormalities
;
Mouse
;
Knock-out mouse
;
Transgenic mouse
刊名:Molecular Genetics and Metabolism Reports
出版年:2016
2.
Forty-eight novel mutations causing biotinidase deficiency
作者:
Melinda Procter
a
;
Barry
Wolf
b
;
bwolf1
@
hfhs
.org"
class
="
auth
_mail" title="E-mail the corresponding
auth
or
;
Rong Mao
a
;
c
关键词:
Biotinidase deficiency
;
Biotinidase
;
Mutation
;
Biotin-responsive
;
Mutation database
刊名:Molecular Genetics and Metabolism
出版年:2016
3.
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
作者:
Barry
Wolf
;
bwolf1
@
hfhs
.org"
class
="
auth
_mail" title="E-mail the corresponding
auth
or
关键词:
Biotinidase
;
Biotinidase deficiency
;
Microdeletion
;
Deletion
;
Mutation
;
Microarray
刊名:Molecular Genetics and Metabolism Reports
出版年:2016
4.
Biotinidase deficiency and our champagne legacy
作者:
Barry
Wolf
bwolf1
@
hfhs
.org"
class
="
auth
_mail" title="E-mail the corresponding
auth
or
关键词:
ATG
;
peptide initiation codon of a messenger RNA transcript translated by a ribosome that encodes a methionine in eukaryotes
;
AMP
;
adenosine monophosphate
;
AMPK
;
5&prime
;
adenosine monophosphate-activated protein kinase
;
BTD
;
designation of the gene that encodes for biotinidase
;
CD4
;
cluster of differentiation 4 is a glycoprotein found on the surface of immune cells
;
such as T-helper cells
;
monocytes
;
macrophages
;
and dendritic cells
刊名:Gene
出版年:2016
5.
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss
作者:
Barry
Wolf
;
bwolf1
@
hfhs
.org"
class
="
auth
_mail" title="E-mail the corresponding
auth
or
关键词:
Myelopathy
;
Biotinidase
;
Biotinidase deficiency
;
Biotin-responsive
;
Spinal disorder
;
Spastic paraplegia
;
Spastic tetraplegia
;
Vision loss
;
Scotoma
刊名:Molecular Genetics and Metabolism
出版年:2015
6.
Characterization and functional analysis of cellular immunity in mice with biotinidase deficiency
作者:
Kirit Pindolia
a
;
b
;
Hong Li
c
;
d
;
Cisley Cardwell
a
;
Barry
Wolf
a
;
b
;
bwolf1
@
hfhs
.org"
class
="
auth
_mail
关键词:
Biotinidase deficiency
;
Biotinidase
;
Biotin
;
Cellular immunity
;
Biotinidase-deficient mouse
;
Multiple carboxylase deficiency
刊名:Molecular Genetics and Metabolism
出版年:May 2014
7.
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene
作者:
H. Li
a
;
b
;
L. Spencer
a
;
b
;
F. Nahhas
c
;
d
;
J. Miller
a
;
e
;
A. Fribley
a
;
e
;
G. Feldman
a
;
b
;
R. Conway
a
;
b
;
B.
Wolf
b
;
f
;
bwolf1
@
hfhs
.org"
class
="
auth
_mail
关键词:
Biotinidase deficiency
;
Mutation
;
Intronic
;
Newborn screening
;
Transcription
刊名:Molecular Genetics and Metabolism
出版年:July 2014
8.
Development and characterization of a mouse with profound biotinidase deficiency: A biotin-responsive neurocutaneous disorder
作者:
Kirit Pindolia
a
;
b
;
Megan Jordan
a
;
Caiying Guo
c
;
Nell Matthews
d
;
Donald M. Mock
d
;
e
;
Erin Strovel
f
;
Miriam Blitzer
f
;
Barry
Wolf
a
;
b
;
bwolf1
@
hfhs
.org
关键词:
Biotinidase deficiency
;
Biotin
;
Transgenic
;
Knockout mouse
;
Animal model
;
Carboxylase deficiency
;
Multiple carboxylase deficiency
;
Metabolic disorders
;
Biotin-responsive disorders
刊名:Molecular Genetics and Metabolism
出版年:2011
9.
The neurology of biotinidase deficiency
作者:
Barry
Wolf
;
;
bwolf1
@
hfhs
.org
关键词:
Biotinidase
;
Biotinidase deficiency
;
Biotin-responsive
;
Carboxylase deficiency
;
Metabolic disease
;
Biotin
刊名:Molecular Genetics and Metabolism
出版年:2011
1
按检索点细分(9)
作者(9)
按出版年细分(9)
2027年及以后(2)
2016年(4)
2015年(1)
2011年(2)
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