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内部出版物
Wiley电子期刊(1)
SpringerLink电子期刊(54)
Elsevier电子期刊(38)
ACS电子期刊(1)
在“
Elsevier电子期刊
”中,
命中:
38
条,耗时:0.018991 秒
在所有数据库中总计命中:
94
条
1.
Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria
作者:
Alberto Burlina
;
alberto.burlina@unipd.it" class="auth_mail" title="E-mail the corresponding author
;
Chiara Cazzorla
;
Elisa Zanonato
;
Emanuela Viggiano
;
Ilaria Fasan
;
Giulia Polo
关键词:
Metabolic decompensation
;
Methylmalonic aciduria
;
N-carbamylglutamate
;
Organic
acidurias
;
Propionic aciduria
刊名:Molecular Genetics and Metabolism Reports
出版年:2016
2.
Mitochondrial Diseases and Cardiomyopathies
作者:
Catherine Brunel-Guitton
;
MD
&lowast
;
;
catherine.brunel-guitton.hsj@ssss.gouv.qc.ca" class="auth_mail" title="E-mail the corresponding author
;
Alina Levtova
;
MD
&lowast
;
;
Florin Sasarman
;
PhD
刊名:Canadian Journal of Cardiology
出版年:2015
3.
P97 - 3032: Epidemiological study of neurometabolic diseases diagnosed at Cairo University Children Hospital: A two years outcome
作者:
I.G. Mahmoud
;
M.A. Moneem
;
D.A. Mehany
刊名:European Journal of Paediatric Neurology
出版年:2015
4.
Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry
作者:
Cristiano Rizzo
;
Sara Boenzi
;
Rita Inglese
;
Giancarlo la Marca
;
Maurizio Muraca
;
Tegra Barreiro Martinez
;
David W. Johnson
;
Eleonora Zelli
;
Carlo Dionisi-Vici
关键词:
MMAs
;
Methylmalonic
acidurias
;
SCS
;
succinyl-CoA synthetase
;
C3-C
;
propionyl-carnitine
;
C4DC-C
;
C4-dicarboxylyl-carnitine
;
C3-C/C2-C
;
propionyl-carnitine/acetyl-carnitine ratio
;
C3-C/C16-C
;
propionyl-carnitine/palmitoyl-carnitine ratio
;
MS/MS
;
tandem mass spectrometry
;
SC
;
succinyl-carnitine
;
MMC
;
methylmalonyl-carnitine
;
TDHFA
;
tridecafluoroheptanoic acid
;
FOA
;
formic acid
;
DP
;
declustering potential
;
CXP
;
collision cell exit potential
;
CE
;
collision energy
;
LOD
;
limit of detection
;
LLOQ
;
lower
刊名:Clinica Chimica Acta
出版年:15 February, 2014
5.
Congenital Genetic Inborn Errors of Metabolism Presenting as an Adult or Persisting Into Adulthood: Neuroimaging in the More Common or Recognizable Disorders
作者:
Shri H. Krishna
;
MD
鈦?/sup>
;
&dagger
;
;
Alexander M. McKinney
;
MD
鈦?/sup>
;
&dagger
;
;
mckinrad@umn.edu" class="auth_mail
;
Leandro T. Lucato
;
MD
&Dagger
;
刊名:Seminars in Ultrasound, CT, and MRI
出版年:April, 2014
6.
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
作者:
Clara D. van Karnebeek
1
;
2
;
3
;
4
;
cvankarnebeek@cw.bc.ca" class="auth_mail
;
William S. Sly
9
;
Colin J. Ross
2
;
3
;
4
;
Ramona Salvarinova
1
;
2
;
3
;
Joy Yaplito-Lee
10
;
Saikat Santra
11
;
Casper Shyr
3
;
4
;
5
;
Gabriella A. Horvath
1
;
2
;
3
;
Patrice Eydoux
3
;
5
;
8
;
Anna M. Lehman
3
;
5
;
Virginie Bernard
3
;
4
;
5
;
Theresa Newlove
3
;
6
;
Henry Ukpeh
2
;
Anupam Chakrapani
11
;
Mary Anne Preece
12
;
Sarah Ball
12
;
James Pitt
10
;
13
;
Hilary D. Vallance
3
;
7
;
8
;
Marion Coulter-Mackie
2
;
3
;
Hien Nguyen
9
;
Lin-Hua Zhang
2
;
3
;
4
;
Amit P. Bhavsar
3
;
4
;
5
;
Graham Sinclair
3
;
7
;
8
;
Abdul Waheed
9
;
Wyeth W. Wasserman
3
;
4
;
5
;
Sylvia Stockler-Ipsiroglu
1
;
2
;
3
刊名:The American Journal of Human Genetics
出版年:6 March, 2014
7.
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment
作者:
Andrea Celato
;
Chiara Mitola
;
Manuela Tolve
;
Maria Teresa Giannini
;
Sabrina De Leo
;
Claudia Carducci
;
Carla Carducci
;
Vincenzo Leuzzi
关键词:
Malonic aciduria
;
Malonylcarnitine (C3DC)
;
Malonyl-CoA decarboxylase deficiency
;
Methylmalonylcarnitine (C4DC)
;
Organic
acidurias
刊名:Brain and Development
出版年:2013
8.
Metabolic profiling of infant urine using comprehensive two-dimensional gas chromatography: Application to the diagnosis of
organic
acidurias
and biomarker discovery
作者:
Konstantinos A. Kouremenos
;
James Pitt
;
Philip J. Marriott
关键词:
Enzyme deficiency
;
Comprehensive two-dimensional gas chromatography (GC ×
;
GC)
;
Time-of-flight mass spectrometry (ToFMS)
;
Derivatization
;
Urinary
organic
acids
;
Metabolite profiling
刊名:Journal of Chromatography A
出版年:2010
9.
Simplified method for the chemical diagnosis of
organic
aciduria using GC/MS
作者:
Katsuhiro Nakagawa
;
Shuichi Kawana
;
Yuki Hasegawa
;
Seiji Yamaguchi
关键词:
Gas chromatograph–
;
mass spectrometer
;
Organic
acidurias
;
Sample preparation
;
Solvent extraction
;
Trimethylsilylation
;
Flash-heater derivatization
刊名:Journal of Chromatography B, Analytical Technologies in the Biomedical and Life Sciences
出版年:2010
10.
Selective screening for
organic
acidemias by urine
organic
acid GC–MS analysis in Brazil: Fifteen-year experience
作者:
Moacir Wajner
;
Daniella de Moura Coelho
;
Rafaela Ingrassia
;
Anderson Bü
;
ker de Oliveira
;
Estela Natacha Br
;
t Busanello
;
Kimiyo Raymond
;
Ricardo Flores Pires
;
Carolina Fischinger Moura de Souza
;
Ro
关键词:
Organic
acidemias
;
Organic
acidurias
;
Organic
acids
;
Inborn errors of metabolism
刊名:Clinica Chimica Acta
出版年:2009
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