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内部出版物
Springer电子图书(2)
CNKI学位论文(3)
在“
Elsevier电子期刊
”中,
命中:
16
条,耗时:小于0.01 秒
在所有数据库中总计命中:
5
条
1.
Fluctuations in phenylalanine concentrations in phenylketonuria: A review of possible relationships with outcomes
作者:
Maureen Cleary
;
Friedrich Trefz
;
Ania C. Muntau
;
Fran莽ois Feillet
;
Francjan J. van Spronsen
;
Alberto
Burlina
;
Amaya B茅langer-Quintana
;
Maria Gi偶ewska
;
Christoph Gasteyger
;
Esther Bettiol
;
Nenad Blau
;
Anita MacDonald
关键词:
BH4
;
6R-tetrahydrobiopterin
;
ECT
;
early and continuously treated
;
HPA
;
hyperphenylalaninemia
;
IDC
;
index of dietary control
;
IQ
;
intelligence quotient
;
LNAA
;
large neutral amino acid
;
PAH
;
phenylalanine hydroxylase
;
PKU
;
phenylketonuria
;
SD
;
standard deviation
;
SEE
;
standard error of the estimate
;
Tyr
;
tyrosine
;
WISC
;
Wechsler Intelligence Scale for Children
刊名:Molecular Genetics and Metabolism
出版年:December, 2013
2.
Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
作者:
Daniele Ghezzi
1
;
7
;
Enrico Baruffini
2
;
7
;
Tobias
;
B. Haack
3
;
4
;
Federica Invernizzi
1
;
Laura Melchionda
1
;
Cristina Dallabona
2
;
Tim
;
M. Strom
3
;
4
;
Rossella Parini
5
;
Alberto
;
B.
Burlina
6
;
Thomas Meitinger
3
;
4
;
Holger Prokisch
3
;
4
;
Ileana Ferrero
2
;
Massimo Zeviani
1
;
zeviani@istituto-besta.it
刊名:The American Journal of Human Genetics
出版年:2012
3.
Increased level of N
作者:
Stefano Sartori
;
Alberto
B.
Burlina
;
Leonardo Salviati
;
Eva Trevisson
;
Irene Toldo
;
Anna Maria Laverda
;
Aless
;
ro P.
Burlina
关键词:
GJA12
;
PLP1
;
Pelizaeus-Merzbacher disease
;
Pelizaeus-Merzbacher-like disease
;
NAAG
刊名:European Journal of Paediatric Neurology
出版年:2008
4.
Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu
作者:
Lucia Valente
;
Valeria Tiranti
;
René
;
Massimiliano Marsano
;
Edoardo Malfatti
;
Erika Fern
;
ez-Vizarra
;
Claudia Donnini
;
Paolo Mereghetti
;
Luca De Gioia
;
Alberto
Burlina
;
Claudio Castellan
;
Giacomo P. Comi
;
Salvatore Savasta
;
Iliana Ferrero
;
Massimo Zeviani
刊名:The American Journal of Human Genetics
出版年:2007
5.
Lysosomal leukocyte β-
d-glucuronidase during enzyme replacement therapy in Fabry disease
作者:
Giancarlo Goi
;
Luca Massaccesi
;
Alessandro P.
Burlina
;
Claudia J. Baquero Herrera
;
Adriana Lombardo
;
Guido Tettamanti and
Alberto
B.
Burlina
刊名:Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease
出版年:2005
6.
Hyperhomocysteinemia predicts total and cardiovascular mortality in high risk women with and without arterial hypertension
作者:
GianPaolo Rossi
;
Maurizio Cesari
;
Giuseppe Maiolino
;
Maria Teresa Seccia
;
Alberto
Burlina
;
Silvia Zavattiero
;
Daniele Sticchi
;
Luigi Pedon
;
Mario Zanchetta
;
Achille C. Pessina
关键词:
Coronary Artery Disease
;
Homocysteine
;
Prognosis
刊名:American Journal of Hypertension
出版年:2005
7.
Higher homocysteine concentrations in women undergoing caesarean section under general anesthesia
作者:
Zanardo
;
Vincenzo
;
Caroni
;
Gabriella
;
Burlina
;
Alberto
关键词:
Homocysteine
;
Caesarean section
;
Nitrous oxide anesthesia
刊名:Thrombosis Research
出版年:2003
8.
Relation between the C
677
T transition in the methylentetrahydrofolate reductase gene, plasma homocyst(e)ine and folate levels, and coronary artery disease in the GENICA (Genetic and Environ
作者:
Gian Paolo Rossi
;
Maurizio Cesari
;
Alberto
Burlina
;
Stefania Colonna
;
Mario Zanchetta
;
Giuseppe Maiolino
;
Pietro Maiolino
;
Achille Cesare Pessina
刊名:Journal of the American College of Cardiology
出版年:2003
9.
Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey
作者:
Carlo Dionisi-Vici
;
Cristiano Rizzo
;
Alberto
B.
Burlina
;
Ubaldo Caruso
;
Gaetano Sabetta
;
Graziella Uziel
;
Damiano Abeni
;
the Italian Metabolic Network Contributing Investigators
刊名:The Journal of Pediatrics
出版年:2002
10.
Tissue Factor Pathway Inhibitor Levels in Patients with Homocystinuria
作者:
Cella
;
Guiseppe
;
Burlina
;
Alberto
;
Sbarai
;
Alessandra
;
Motta
;
Giovanna
;
Girolami
;
Antonio
;
et. al.
关键词:
Homocystinuria
;
Tissue factor pathway inhibitor
;
Homocyst(e)ine
;
Thrombosis
;
Hcy
;
homocyst(e)ine
;
HHcy
;
hyperhomocystin(e)mia
;
CBS
;
cystathionine-β
;
-synthase
;
PPP
;
platelet-poor plasma
;
TF
;
tissue factor
;
TFPI
;
tissue factor pathway inhibitor
;
TM
;
thr
刊名:Thrombosis Research
出版年:2000
1
2
按检索点细分(16)
作者(16)
按出版年细分(16)
2027年及以后(1)
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2008年(1)
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2002年(1)
2001年(1)
2000年(3)
2000年及以前(3)
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