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Results: 14

1.

Newborn Screening for Lysosomal Storage Diseases.

Gelb MH, Scott CR, Turecek F.

Clin Chem. 2015 Feb;61(2):335-346. Epub 2014 Dec 4. Review.

PMID:
25477536
[PubMed - as supplied by publisher]
Free PMC Article
2.

Newborn screening for hunter disease: a small-scale feasibility study.

Ruijter GJ, Goudriaan DA, Boer AM, Van den Bosch J, Van der Ploeg AT, Elvers LH, Weinreich SS, Reuser AJ.

JIMD Rep. 2014;14:23-7. doi: 10.1007/8904_2013_279. Epub 2013 Nov 23.

PMID:
24272678
[PubMed]
Free PMC Article
3.

Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry.

Brand GD, Matos HC, Cruz GC, Fontes Ndo C, Buzzi M, Brum JM.

Clinics (Sao Paulo). 2013 Nov;68(11):1469-73. doi: 10.6061/clinics/2013(11)14.

PMID:
24270961
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan.

Lin SP, Lin HY, Wang TJ, Chang CY, Lin CH, Huang SF, Tsai CC, Liu HL, Keutzer J, Chuang CK.

Orphanet J Rare Dis. 2013 Sep 22;8:147. doi: 10.1186/1750-1172-8-147.

PMID:
24053568
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Winger T, Srinivasan V, Bali D, Millington DS, Pamula VK.

Clin Chim Acta. 2013 Sep 23;424:12-8. doi: 10.1016/j.cca.2013.05.001. Epub 2013 May 7.

PMID:
23660237
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects.

Uribe A, Giugliani R.

JIMD Rep. 2013;11:107-16. doi: 10.1007/8904_2013_229. Epub 2013 Apr 23.

PMID:
23609959
[PubMed]
Free PMC Article
7.

Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.

Scott CR, Elliott S, Buroker N, Thomas LI, Keutzer J, Glass M, Gelb MH, Turecek F.

J Pediatr. 2013 Aug;163(2):498-503. doi: 10.1016/j.jpeds.2013.01.031. Epub 2013 Mar 1.

PMID:
23465405
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians.

Coman DJ, Hayes IM, Collins V, Sahhar M, Wraith JE, Delatycki MB.

JIMD Rep. 2011;1:9-15. doi: 10.1007/8904_2011_9. Epub 2011 Jun 22.

PMID:
23430821
[PubMed]
Free PMC Article
9.

Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders.

Orsini JJ, Martin MM, Showers AL, Bodamer OA, Zhang XK, Gelb MH, Caggana M.

Clin Chim Acta. 2012 Aug 16;413(15-16):1270-3. doi: 10.1016/j.cca.2012.04.012. Epub 2012 Apr 21.

PMID:
22548856
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases.

Spáčil Z, Elliott S, Reeber SL, Gelb MH, Scott CR, Tureček F.

Anal Chem. 2011 Jun 15;83(12):4822-8. doi: 10.1021/ac200417u. Epub 2011 May 17.

PMID:
21548611
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Lysosomal storage disorders: molecular basis and laboratory testing.

Filocamo M, Morrone A.

Hum Genomics. 2011 Mar;5(3):156-69. Review.

PMID:
21504867
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Duffey TA, Sadilek M, Scott CR, Turecek F, Gelb MH.

Anal Chem. 2010 Nov 15;82(22):9587-91. doi: 10.1021/ac102090v. Epub 2010 Oct 20.

PMID:
20961069
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience.

Müller KB, Rodrigues MD, Pereira VG, Martins AM, D'Almeida V.

Diagn Pathol. 2010 Sep 29;5:65. doi: 10.1186/1746-1596-5-65.

PMID:
20920262
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Multiplex lysosomal enzyme activity assay on dried blood spots using tandem mass spectrometry.

Zhang XK, Elbin CS, Turecek F, Scott R, Chuang WL, Keutzer JM, Gelb M.

Methods Mol Biol. 2010;603:339-50. doi: 10.1007/978-1-60761-459-3_32.

PMID:
20077085
[PubMed - indexed for MEDLINE]
Free PMC Article
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