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CNKI学位论文(30)
知网期刊论文(9)
在“
Elsevier电子期刊
”中,
命中:
24
条,耗时:小于0.01 秒
在所有数据库中总计命中:
39
条
1.
Asymptomatic phosphomannose isomerase
deficiency
(MPI-CDG) initially mistaken for excessive alcohol consumption
作者:
Anders Helander
a
;
b
;
anders.helander@ki.se" class="auth_mail
;
Jaak Jaeken
c
;
Gert Matthijs
d
;
Gö
;
sta Eggertsen
a
;
b
关键词:
Alcohol biomarkers
;
Congenital disorder of glycosylation (CDG)
;
Phosphomannose isomerase (MPI)
;
Carbohydrate-deficient transferrin (CDT)
;
Human transferrin
刊名:Clinica Chimica Acta
出版年:20 April, 2014
2.
Clinical picture of S-adenosylhomocysteine hydrolase
deficiency
resembles
phosphomannomutase
2
deficiency
作者:
Tomá
;
&scaron
;
Honzí
;
k
a
;
b
;
Martin Magner
b
;
Jakub Krijt
a
;
Jitka Sokolová
;
a
;
Oliver Vugrek
c
;
Robert Belu?i?
c
;
Ivo Bari?
d
;
Hana Hansí
;
kova
b
;
Milan Elleder
a
;
1
;
Kate?ina Veselá
;
b
;
Lenka Bauerová
;
e
;
Nina Ondru&scaron
;
ková
;
b
;
Pavel Je&scaron
;
ina
a
;
Ji?í
;
Zeman
a
;
b
;
Viktor Ko?ich
a
;
2
;
Viktor.Kozich@LF1.cuni.cz
关键词:
AdoHcy
;
S-adenosyl-L-homocysteine
;
AdoMet
;
S-adenosyl-L-methionine
;
AHCY
;
S-adenosyl-L-homocysteine hydrolase gene
;
ALT
;
alanine transaminase (alanine aminotransferase or serum glutamic pyruvic transaminase)
;
AST
;
aspartate transaminase (aspartate aminotr
刊名:Molecular Genetics and Metabolism
出版年:2012
3.
Dolichol kinase
deficiency
(DOLK-CDG) with a purely neurological presentation caused by a novel mutation
作者:
Anders Hel
;
er
;
Tommy St?dberg
;
Jaak Jaeken
;
Gert Matthijs
;
Maud Eriksson
;
G?sta Eggertsen
关键词:
Congenital disorder of glycosylation
;
Dolichol kinase
;
DOLK-CDG
;
Transferrin glycosylation
;
Carbohydrate-deficient transferrin
刊名:Molecular Genetics and Metabolism
出版年:2013
4.
The clinical spectrum of
phosphomannomutase
2
deficiency
(CDG-Ia)
作者:
Stephanie Grü
;
newald
关键词:
Congenital disorders of glycosylation (CDG)
;
CDG-Ia
;
Phosphomannomutase
(PMM)
deficiency
;
PMM2
deficiency
;
Jaeken's syndrome
刊名:Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease
出版年:2009
5.
Towards a therapy for
phosphomannomutase
2
deficiency
, the defect in CDG-Ia patients
作者:
Hudson H. Freeze
关键词:
Glycosylation disorder
;
CDG
;
Phosphomannomutase
2
;
Phosphomannose isomerase
;
Therapy
;
High throughput screening
刊名:Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease
出版年:2009
6.
Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype
作者:
D. Coman
;
J. McGill
;
R. MacDonald
;
D. Morris
;
S. Klingberg
;
J. Jaeken
;
D. Appleton
关键词:
Congenital disorder of glycosylation type 1a
;
Phosphomannomutase
;
Transferrin isoforms
刊名:Journal of Clinical Neuroscience
出版年:2007
7.
Carbohydrate-deficient glycoprotein syndrome type IA (
phosphomannomutase
-
deficiency
)
作者:
Carchon
;
Hubert
;
Van Schaftingen
;
Emile
;
Matthijs
;
Gert
;
Jaeken
;
Jaak
关键词:
Carbohydrate-deficient glycoprotein syndrome
;
Glycoprotein
;
N-Glycosylation
;
Serum transferrin
;
Phosphomannomutase
deficiency
;
APTS
;
9-aminopyrene-1
4 ;
6-trisulfonate
;
CDG
;
carbohydrate-deficient glycoprotein
;
CDGS
;
carbohydrate-deficient glycoprotein synd
刊名:Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease
出版年:1999
8.
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (
phosphomannomutase
deficiency
)
作者:
Barone
;
Rita
;
Pavone
;
Lorenzo
;
Fiumara
;
Agata
;
Bianchini
;
Rio
;
Jaeken
;
Jaak
关键词:
Carbohydrate-deficient
;
Glycoconjugate syndrome
;
Phosphomannomutase
deficiency
;
Neuropsychological assessment
刊名:Brain and Development
出版年:1999
9.
Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs)
作者:
Stefania Biffi
;
Giorgio Tamaro
;
Barbara Bortot
;
Silvia Zamberlan
;
Giovanni Maria Severini
;
Marco Carrozzi
关键词:
Transferrin
;
CDT
;
CDG
;
HPLC
刊名:Clinical Biochemistry
出版年:2007
10.
Phosphomannomutase
activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchang
作者:
Orvisky
;
E.
;
Stubblefield
;
B.
;
Long
;
R.T.
;
Martin
;
B.M.
;
Sidransky
;
E.
;
Krasnewich
;
D.
关键词:
Phosphomannomutase
activity
;
Congenital disorders of glycosylation
;
HPAEC-PAD
;
mannose-1-phosphate
刊名:Analytical Biochemistry
出版年:2003
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