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Elsevier电子期刊(101)
在“
Elsevier电子期刊
”中,
命中:
101
条,耗时:小于0.01 秒
在所有数据库中总计命中:
101
条
1.
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 author
关键词:
Biotinidase
;
Biotinidase
deficiency
;
Microdeletion
;
Deletion
;
Mutation
;
Microarray
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 author
;
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.
Flexible digital microfluidic platform to multiplex various combinations of enzymatic assays for newborn screening of Pompe, mucopolysaccharidosis types I and II,
biotinidase
deficiency and galactosemia disorders
作者:
Anirudh Ullal
;
Rainer Ng
;
Miriam Nuffer
;
Carrie Graham
;
Lisa Nelson
;
Rajendra Singh
;
Vamsee Pamula
刊名:Molecular Genetics and Metabolism
出版年:2017
4.
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
5.
Anaesthesia management in a patient with a severe
biotinidase
deficiency for congenital scoliosis repair
作者:
Ebrahim Almasri
;
ebrahimmasry@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
Rashad AlQasim
1
;
Rashad.algasim@bdfmedical.org" class="auth_mail" title="E-mail the corresponding author
;
Puja Deshpande
2
;
pujadbz@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Biotinidase
deficiency
;
Scoliosis
;
Cerebral palsy
;
Mental retardation
;
Anaesthetic management
刊名:Egyptian Journal of Anaesthesia
出版年:2016
6.
Biotinidase
deficiency and our champagne legacy
作者:
Barry Wolf
bwolf1@hfhs.org" class="auth_mail" title="E-mail the corresponding author
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
7.
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 author
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
8.
Biotinidase
deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014)
作者:
Srinitya Gannavarapu
a
;
Chitra Prasad
a
;
Chitra.Prasad@lhsc.on.ca" class="auth_mail" title="E-mail the corresponding author
;
Jennifer DiRaimo
a
;
Melanie Napier
a
;
Sharan Goobie
a
;
Murray Potter
b
;
Pranesh Chakraborty
c
;
Maria Karaceper
c
;
Tatiana Munoz
d
;
Andreas Schulze
d
;
e
;
Jennifer MacKenzie
f
;
Lihua Li
g
;
Michael T. Geraghty
c
;
h
;
Osama Y. Al-Dirbashi
c
;
h
;
C. Anthony Rupar
a
;
i
关键词:
Biotinidase
deficiency
;
Metabolic disease
;
Mutation analysis
;
Newborn screening
;
Biochemical phenotype-genotype associations
刊名:Molecular Genetics and Metabolism
出版年:2015
9.
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
10.
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
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