Cited Articles for PMCID: 5920142

Year	Number of Results
1999	1
2000	1
2005	1
2006	1
2008	4
2009	1
2010	2
2011	5
2012	2
2013	1
2014	2
2015	4
2016	3
2017	3
2018	2
2024	0

1

Next generation sequencing as a follow-up test in an expanded newborn screening programme.

Smon A, Repic Lampret B, Groselj U, Zerjav Tansek M, Kovac J, Perko D, Bertok S, Battelino T, Trebusak Podkrajsek K. Smon A, et al. Clin Biochem. 2018 Feb;52:48-55. doi: 10.1016/j.clinbiochem.2017.10.016. Epub 2017 Oct 27. Clin Biochem. 2018. PMID: 29111448

2

Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening.

Qian J, Wang X, Liu J, Zhong J, Le Y, Melchior Tellier LCA, Liu C, Jiang P, Gao R, Wang Y. Qian J, et al. J Pediatr Endocrinol Metab. 2017 Aug 28;30(9):979-988. doi: 10.1515/jpem-2017-0003. J Pediatr Endocrinol Metab. 2017. PMID: 28771436 Free article.

3

A Novel Alzheimer-Associated SNP in Tmp21 Increases Amyloidogenesis.

Zhang X, Wu Y, Cai F, Liu S, Bromley-Brits K, Xia K, Song W. Zhang X, et al. Mol Neurobiol. 2018 Mar;55(3):1862-1870. doi: 10.1007/s12035-017-0459-9. Epub 2017 Feb 23. Mol Neurobiol. 2018. PMID: 28233271

4

Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges.

Yunus ZM, Rahman SA, Choy YS, Keng WT, Ngu LH. Yunus ZM, et al. J Pediatr Endocrinol Metab. 2016 Sep 1;29(9):1031-9. doi: 10.1515/jpem-2016-0028. J Pediatr Endocrinol Metab. 2016. PMID: 27544719

5

Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.

Hassan FA, El-Mougy F, Sharaf SA, Mandour I, Morgan MF, Selim LA, Hassan SA, Salem F, Oraby A, Girgis MY, Mahmoud IG, El-Badawy A, El-Nekhely I, Moharam N, Mehaney DA, Elmonem MA. Hassan FA, et al. J Med Screen. 2016 Sep;23(3):124-9. doi: 10.1177/0969141315618229. Epub 2016 Jan 20. J Med Screen. 2016. PMID: 26790708

6

Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.

Han B, Cao Z, Tian L, Zou H, Yang L, Zhu W, Liu Y. Han B, et al. Brain Dev. 2016 May;38(5):491-7. doi: 10.1016/j.braindev.2015.10.016. Epub 2015 Nov 10. Brain Dev. 2016. PMID: 26563984

7

Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.

Mutlu-Albayrak H, Bene J, Oflaz MB, Tanyalçın T, Çaksen H, Melegh B. Mutlu-Albayrak H, et al. Case Rep Genet. 2015;2015:259627. doi: 10.1155/2015/259627. Epub 2015 May 5. Case Rep Genet. 2015. PMID: 26075114 Free PMC article.

8

Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries.

Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M, Grimci L, Ivanova M, Kadam A, Kotori V, Maksic H, Marginean O, Margineanu O, Miljanovic O, Moldovanu F, Muresan M, Nanu M, Samardzic M, Sarnavka V, Savov A, Stojiljkovic M, Suzic B, Tincheva R, Tahirovic H, Toromanovic A, Usurelu N, Battelino T. Zerjav Tansek M, et al. Orphanet J Rare Dis. 2015 May 30;10:68. doi: 10.1186/s13023-015-0283-0. Orphanet J Rare Dis. 2015. PMID: 26025111 Free PMC article.

9

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.

Scolamiero E, Cozzolino C, Albano L, Ansalone A, Caterino M, Corbo G, di Girolamo MG, Di Stefano C, Durante A, Franzese G, Franzese I, Gallo G, Giliberti P, Ingenito L, Ippolito G, Malamisura B, Mazzeo P, Norma A, Ombrone D, Parenti G, Pellecchia S, Pecce R, Pierucci I, Romanelli R, Rossi A, Siano M, Stoduto T, Villani GR, Andria G, Salvatore F, Frisso G, Ruoppolo M. Scolamiero E, et al. Mol Biosyst. 2015 Jun;11(6):1525-35. doi: 10.1039/c4mb00729h. Mol Biosyst. 2015. PMID: 25689098

10

Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program.

Lim JS, Tan ES, John CM, Poh S, Yeo SJ, Ang JS, Adakalaisamy P, Rozalli RA, Hart C, Tan ET, Ranieri E, Rajadurai VS, Cleary MA, Goh DL. Lim JS, et al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):53-61. doi: 10.1016/j.ymgme.2014.07.018. Epub 2014 Jul 23. Mol Genet Metab. 2014. PMID: 25102806

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