Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies-Reference-Cited by-同舟云学术

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Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies

Published:2016-07-29 Issue: Volume:4 Page:232640981666629
ISSN:2326-4098
Container-title:Journal of Inborn Errors of Metabolism and Screening
language:en
Short-container-title:Journal of Inborn Errors of Metabolism and Screening

Author:

Sinclair Graham B.¹²³⁴,Ester Manuel¹,Horvath Gabriella⁴⁵⁶,Karnebeek Clara D. van²³⁴⁵⁶,Stockler-Ipsirogu Sylvia²³⁴⁵,Vallance Hilary¹²³⁴

Affiliation:

1. Department of Pathology and Laboratory Medicine, British Columbia Children’s Hospital, Vancouver, BC, Canada

2. Treatable Intellectual Disability Endeavour, British Columbia Children’s Hospital, Vancouver, BC, Canada

3. Child and Family Research Institute, British Columbia Children’s Hospital, Vancouver, BC, Canada

4. University of British Columbia, British Columbia Children’s Hospital, Vancouver, BC, Canada

5. Department of Pediatrics, British Columbia Children’s Hospital, Vancouver, BC, Canada

6. Centre for Molecular Medicine and Therapeutics, British Columbia Children’s Hospital, Vancouver, BC, Canada

Publisher

FapUNIFESP (SciELO)

Subject

Genetics(clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/2326409816666296

Reference14 articles.

1. Expanded Newborn Screening: Implications for Genomic Medicine

2. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004–2007)

3. Second-Tier Test for Quantification of Alloisoleucine and Branched-Chain Amino Acids in Dried Blood Spots to Improve Newborn Screening for Maple Syrup Urine Disease (MSUD)

4. Serum steroid profiling for Congenital Adrenal Hyperplasia using liquid chromatography–tandem mass spectrometry

5. Feasibility of newborn screening for guanidinoacetate methyltransferase (GAMT) deficiency

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK;International Journal of Neonatal Screening;2024-03-13

2. Over 50 Years of Population‐Based Dried Blood Spot Sampling of Newborns; Assuring Quality Testing and Lessons Learned;Patient Centric Blood Sampling and Quantitative Bioanalysis;2023-10-13

3. Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia’s newborn screening programme;Clinical Chemistry and Laboratory Medicine (CCLM);2023-10-06

4. Quantitative Determination of Branched-Chain Amino Acids in Dried Blood Spot Samples by LC-MSMS and its Application in Diagnosis and Follow-Up of Chilean Patients with Maple Syrup Urine Disease;Journal of Inborn Errors of Metabolism and Screening;2021

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