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内部出版物
CNKI学位论文(6)
知网期刊论文(2)
在“
Elsevier电子期刊
”中,
命中:
15
条,耗时:小于0.01 秒
在所有数据库中总计命中:
8
条
1.
Glycan-based biomarkers for mucopolysaccharidoses
作者:
Roger Lawrence
;
Jillian R. Brown
;
Fred
Lorey
;
Patricia I. Dickson
;
Brett E. Crawford
;
Jeffrey D. Esko
关键词:
Carbohydrate biomarkers
;
Lysosomal storage disorders
;
Mucopolysaccharidoses
;
Glycosaminoglycans
;
Mass spectrometry
;
Sensi-Pro assay
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
2.
Newborn screening for lysosomal and other disorders: a comparative effectiveness study
作者:
Dietrich Matern
;
Devin Oglesbee
;
Grazia Isaya
;
Silvia Tortorelli
;
Dimitar Gavrilov
;
John Hopwood
;
Fred
Lorey
;
Piero Rinaldo
;
Kimiyo Raymond
刊名:Molecular Genetics and Metabolism
出版年:February, 2014
3.
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years
作者:
Antonia Kwan
;
Joseph A. Church
;
Morton J. Cowan
;
Rajni Agarwal
;
Neena Kapoor
;
Donald B. Kohn
;
David B. Lewis
;
Sean A. McGhee
;
Theodore B. Moore
;
E. Richard Stiehm
;
Matthew Porteus
;
Constantino P. Aznar
;
Robert Currier
;
Fred
Lorey
;
Jennifer M. Puck
关键词:
Severe combined immunodeficiency
;
newborn screening
;
T-cell receptor excision circle
;
T-cell lymphopenia
;
DiGeorge syndrome
刊名:Journal of Allergy and Clinical Immunology
出版年:2013
4.
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database
作者:
Christina Lam
;
Jennifer M. Carter
;
Stephen D. Cederbaum
;
Julie Neidich
;
Natalie M. Gallant
;
Fred
Lorey
;
Lisa Feuchtbaum
;
Derek A. Wong
关键词:
3-Methylcrotonyl-CoA carboxylase deficiency
;
3-MCCD
;
Newborn screening
;
Clinical
;
Outcome
;
Database
刊名:Molecular Genetics and Metabolism
出版年:December, 2013
5.
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California
作者:
Tina M. Cowan
;
Niloufar Neely Kazerouni
;
Nilesh Dharajiya
;
Fred
Lorey
;
Marie Roberson
;
Christina Hodgkinson
;
Iris Schrijver
关键词:
Biotinidase deficiency
;
BTD
;
Newborn screening
;
Incidence
;
Ethnicity
刊名:Molecular Genetics and Metabolism
出版年:2012
6.
Two-Tier Approach to the Newborn Screening of Methylenetetrahydrofolate Reductase Deficiency and Other Remethylation Disorders with Tandem Mass Spectrometry
作者:
Silvia Tortorelli
;
Coleman T. Turgeon
;
James S. Lim
;
Steve Baumgart
;
Debra-Lynn Day-Salvatore
;
Jose Abdenur
;
Jonathan A. Bernstein
;
Fred
Lorey
;
Uta Lichter-Konecki
;
Devin Oglesbee
;
Kimiyo Raymond
;
Dietrich Matern
;
Lisa Schimmenti
;
Piero Rinaldo
;
Dimitar K. Gavrilov
刊名:The Journal of Pediatrics
出版年:2010
7.
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method
作者:
Walter C. Hubbard
;
Ann B. Moser
;
Anita C. Liu
;
Richard O. Jones
;
Steven J. Steinberg
;
Fred
Lorey
;
Susan R. Panny
;
Robert F. Vogt Jr.
;
Daniela Macaya
;
Coleman T. Turgeon
;
Silvia Tortorelli
;
Gerald V. R
关键词:
X-ALD
;
Lyso-phosphatidyl-choline (lyso-PC)
;
Combined liquid chromatography–
;
tandem mass spectrometry (LC–
;
MS/MS)
;
Multiple reaction monitoring (MRM)
;
1-Hexacosanoyl-2-lysophosphorylcholine (26
;
0-lyso-PC)
;
Newborn screening
;
Phospholipids
;
Pero
刊名:Molecular Genetics and Metabolism
出版年:2009
8.
Asymptomatic Maternal Combined Homocystinuria and Methylmalonic Aciduria (cblC) Detected through Low Carnitine Levels on Newborn Screening
作者:
Henry J. Lin
;
Julie A. Neidich
;
Denise Salazar
;
Evangela Thomas-Johnson
;
Barbara F. Ferreira
;
Alan M. Kwong
;
Amy M. Lin
;
Adam J. Jonas
;
Steven Levine
;
Fred
Lorey
;
David S. Rosenblatt
刊名:The Journal of Pediatrics
出版年:2009
9.
Miscarriage risk from amniocentesis performed for abnormal maternal serum screening
作者:
Dena Towner
;
Robert J. Currier
;
Fred
W.
Lorey
;
George C. Cunningham
;
Linda C. Greve
关键词:
alpha-fetoprotein
;
amniocentesis
;
maternal serum screening
;
miscarriage
刊名:American Journal of Obstetrics and Gynecology
出版年:2007
10.
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease
作者:
Charles A. Kroll
;
Matt J. Ferber
;
Brian D. Dawson
;
Robert M. Jacobson
;
Kara A. Mensink
;
Fred
Lorey
;
John Sherwin
;
George Cunningham
;
Piero Rinaldo
;
Dietrich Matern and Si Houn Hahn
关键词:
Wilson disease
;
Newborn screening
;
ELISA
;
Dried blood spots
;
Ceruloplasmin
;
Pediatric screening
刊名:Molecular Genetics and Metabolism
出版年:2006
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