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Elsevier电子期刊(179)

在“Elsevier电子期刊”中，命中：179条，耗时：0.0199906 秒

在所有数据库中总计命中：246条

1.Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA-ESI-MS/MS analysis of dried blood spot extracts for newborn screening

作者：Christopher A. Haynes ; ^{cph7@cdc.gov" class="auth_mail" title="E-mail the corresponding author} ; Ví ; ctor R. De Jesús

关键词：Flow-injection analysis ; Tandem mass spectrometry ; Newborn screening ; Dried blood spot ; X-linked adrenoleukodystrophy

刊名：Clinical Biochemistry

出版年：2016

2.Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA-ESI-MS/MS analysis of dried blood spot extracts for newborn screening

作者：Christopher A. Haynes ; ^{cph7@cdc.gov" class="auth_mail" title="E-mail the corresponding author} ; Ví ; ctor R. De Jesús

关键词：Flow-injection analysis ; Tandem mass spectrometry ; Newborn screening ; Dried blood spot ; X-linked adrenoleukodystrophy

刊名：Clinical Biochemistry

出版年：2016

3.Cost-Effectiveness/Cost-Benefit Analysis of Newborn Screening for Severe Combined Immune Deficiency in Washington State

作者：Yao Ding ; PhD¹ ; John D. Thompson ; PhD² ; Lisa Kobrynski ; MD³ ; Jelili Ojodu ; MPH¹ ; Guisou Zarbalian ; MPH¹ ; Scott D. Grosse ; PhD⁴ ; ^{sgrosse@cdc.gov" class="auth_mail" title="E-mail the corresponding author}

关键词：ADA ; Adenosine deaminase ; ADA-SCID ; ADA deficient SCID ; CBA ; Cost-benefit analysis ; CEA ; Cost-effectiveness analysis ; DBS ; Dried blood spot ; ERT ; Enzyme replacement therapy ; HCT ; Hematopoietic cell transplantation ; ICER ; Incremental cost-effectiveness ratio ; NBS ; Newborn screening ; PEG-ADA ; Polyethylene glycol-modified bovine ADA ; QALY ; Quality-adjusted life-year ; SCID ; Severe combined immunodeficiency ; TCL ; T-cell lymphopenia ; TREC ; T-cell receptor excision circle ; VSL ; Value of a statistical l

刊名：The Journal of Pediatrics

出版年：2016

4.Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis

作者：Marci K. Sontag ; PhD¹ ; ^{marci.sontag@ucdenver.edu" class="auth_mail" title="E-mail the corresponding author} ; Rachel Lee ; PhD² ; ³ ; Daniel Wright ; BS³ ; Debra Freedenberg ; MD ; PhD² ; Scott D. Sagel ; MD ; PhD⁴

关键词：neonatal screening ; accuracy ; carriers ; cystic fibrosis-related metabolic syndrome

刊名：The Journal of Pediatrics

出版年：2016

5.Newborn screening for congenital adrenal hyperplasia in New York State

作者：Melissa Pearce^a ; Lenore DeMartino^a ; Rebecca McMahon^a ; Rhonda Hamel^a ; Breanne Maloney^a ; Daniele-Marisa Stansfield^a ; Emily C. McGrath^a ; Amanda Occhionero^a ; Adam Gearhart^a ; Michele Caggana^a ; Norma P. Tavakoli^a ; ^b ; ^{norma.tavakoli@health.ny.gov" class="auth_mail" title="E-mail the corresponding author}

关键词：Congenital adrenal hyperplasia ; Newborn screening ; 17α-Hydroxyprogesterone ; 21-Hydroxylase deficiency

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

6.Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

作者：Susan Elliott^a ; Norman Buroker^a ; Jason J. Cournoyer^b ; Anna M. Potier^b ; Joseph D. Trometer^b ; Carole Elbin^b ; Mack J. Schermer^b ; Jaana Kantola^e ; Aaron Boyce^a ; Frantisek Turecek^c ; Michael H. Gelb^c ; ^d ; ^{gelb@uw.edu" class="auth_mail" title="E-mail the corresponding author} ; C. Ronald Scott^a ; ^{crscott@u.washington.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：DBS ; Dried blood spot on a newborn screening card ; GAA ; Acid α-glucosidase ; GALC ; Galactocerebrosidase ; GBA ; Glucocerebrosidase ; GLA ; α-Galactosidase A ; IDUA ; α-Iduronidase ; MPS-I ; Mucopolysaccharidosis-I ; MS/MS ; Tandem mass spectrometry ; MRM ; Multiple reaction monitoring ; NBS ; Newborn screening ; SMPD1 ; Sphingomyelin phosphodiesterase-1

刊名：Molecular Genetics and Metabolism

出版年：2016

7.Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency

作者：Theresa H. Schroder^a ; ^b ; ^{schrod10@mail.ubc.ca" class="auth_mail" title="E-mail the corresponding author} ; Andre Mattman^b ; ^c ; ^{amattman@providencehealth.bc.ca" class="auth_mail" title="E-mail the corresponding author} ; Graham Sinclair^b ; ^d ; ^{gsinclair@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author} ; Hilary D. Vallance^b ; ^d ; ^{hvallance@cw.bc.ca" class="auth_mail" title="E-mail the corresponding author} ; Yvonne Lamers^a ; ^b ; ^{yvonne.lamers@ubc.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：B-12 ; vitamin B12 ; MMA ; methylmalonic acid ; DBS ; dried blood spot ; LC&ndash ; MS/MS ; liquid chromatography&ndash ; tandem mass spectrometry ; 95% CI ; 95% confidence interval

刊名：Clinical Biochemistry

出版年：2016

8.Development of filter paper hemoglobin A1c assay applicable to newborn screening

作者：Allison J. Pollock^a ; ^{apollock@pediatrics.wisc.edu" class="auth_mail" title="E-mail the corresponding author} ; David B. Allen^a ; Donald Wiebe^a ; Jens Eickhoff^a ; Michael MacDonald^a ; Mei Baker^a ; ^b

关键词：GlyHb ; total glycosylated hemoglobin ; NBS ; newborn screening ; PKU ; phenylketonuria ; WSLH ; Wisconsin State Laboratory of Hygiene ; DBS ; dried blood spots ; NGSP ; National Glycohemoglobin Standardization Program

刊名：Clinica Chimica Acta

出版年：2016

9.3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency

作者：Yin-Hsiu Chien^a ; ^b ; ^h ; Pin-Wen Chen^a ; Ni-Chung Lee^a ; ^b ; ^h ; Wu-Shiun Hsieh^b ; ^h ; Pao-Chin Chiu^c ; Wuh-Liang Hwu^a ; ^b ; ^h ; ^{hwuwlntu@ntu.edu.tw" class="auth_mail" title="E-mail the corresponding author} ; Fuu-Jen Tsai^d ; Shuan-Pei Lin^e ; Shao-Yin Chu^f ; Yuh-Jyh Jong^g ; Mei-Chyn Chao^g

关键词：3-OMD ; 3-O-methyldopa ; AADC ; Aromatic l-amino acid decarboxylase ; CI ; confidence interval ; DBS ; dried blood spots ; GA ; gestational age ; HIAA ; 5-hydroxyindolacetic acid ; HVA ; homovanillic acid ; LC-MS/MS ; Liquid chromatography-tandem mass spectrometry ; OGC ; oculogyric crisis ; PET ; positron emission tomography

刊名：Molecular Genetics and Metabolism

出版年：2016

10.Holocarboxylase synthetase deficiency pre and post newborn screening

作者：Taraka R. Donti^a ; Patrick R. Blackburn^b ; Paldeep S. Atwal^a ; ^b ;

关键词：3-MCC ; 3-methylcrotonyl-CoA carboxylase ; ACP ; acylcarnitine profile ; DOL ; day of life ; HCLS ; holocarboxylase synthetase ; NBS ; newborn screen

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

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