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Items: 1 to 20 of 69

1.

Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.

De Jesus VR, Zhang XK, Keutzer J, Bodamer OA, Mühl A, Orsini JJ, Caggana M, Vogt RF, Hannon WH.

Clin Chem. 2009 Jan;55(1):158-64. doi: 10.1373/clinchem.2008.111864. Epub 2008 Nov 6.

2.

LC-MS/MS progress in newborn screening.

Lehotay DC, Hall P, Lepage J, Eichhorst JC, Etter ML, Greenberg CR.

Clin Biochem. 2011 Jan;44(1):21-31. doi: 10.1016/j.clinbiochem.2010.08.007. Epub 2010 Aug 13. Review.

PMID:
20709048
3.

Dried blood spot sampling in combination with LC-MS/MS for quantitative analysis of small molecules.

Li W, Tse FL.

Biomed Chromatogr. 2010 Jan;24(1):49-65. doi: 10.1002/bmc.1367. Review.

PMID:
20017122
4.

Newborn screening of lysosomal storage disorders.

Marsden D, Levy H.

Clin Chem. 2010 Jul;56(7):1071-9. doi: 10.1373/clinchem.2009.141622. Epub 2010 May 20. Review.

5.

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J.

Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Review.

PMID:
21831684
6.

Current strategies in the management of lysosomal storage diseases.

Heese BA.

Semin Pediatr Neurol. 2008 Sep;15(3):119-26. doi: 10.1016/j.spen.2008.05.005. Review.

PMID:
18708002
7.

Newborn screening for neuropathic lysosomal storage disorders.

Hwu WL, Chien YH, Lee NC.

J Inherit Metab Dis. 2010 Aug;33(4):381-6. doi: 10.1007/s10545-010-9130-6. Epub 2010 Jun 8. Review.

PMID:
20532820
8.

Newborn screening for lysosomal storage disorders.

Nakamura K, Hattori K, Endo F.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):63-71. doi: 10.1002/ajmg.c.30291. Epub 2011 Feb 10. Review.

PMID:
21312327
9.

Newborn screening for lysosomal storage disorders.

Matern D.

Acta Paediatr. 2008 Apr;97(457):33-7. doi: 10.1111/j.1651-2227.2008.00652.x. Review.

PMID:
18339185
10.

Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases.

Hwu WL, Chien YH, Lee NC, Wang SF, Chiang SC, Hsu LW.

Top Curr Chem. 2014;336:177-96. doi: 10.1007/128_2012_354. Review.

PMID:
22911488
11.

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.

Chace DH, Kalas TA, Naylor EW.

Clin Chem. 2003 Nov;49(11):1797-817. Review.

12.

Expanding newborn screening for lysosomal disorders: opportunities and challenges.

Waggoner DJ, Tan CA.

Dev Disabil Res Rev. 2011;17(1):9-14. doi: 10.1002/ddrr.132. Review.

PMID:
22447749
13.

Newborn screening for lysosomal storage diseases.

Gelb MH, Scott CR, Turecek F.

Clin Chem. 2015 Feb;61(2):335-46. doi: 10.1373/clinchem.2014.225771. Epub 2014 Dec 4. Review.

14.

Newborn screening for lysosomal storage disorders.

Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S.

Semin Perinatol. 2015 Apr;39(3):206-16. doi: 10.1053/j.semperi.2015.03.005. Epub 2015 Apr 16. Review.

PMID:
25891428
15.

Newborn screening.

Wilcken B, Wiley V.

Pathology. 2008 Feb;40(2):104-15. doi: 10.1080/00313020701813743. Review.

PMID:
18203033
16.

Mass spectrometry in the study of lysosomal storage disorders.

Meikle PJ, Fuller M, Hopwood JJ.

Cell Mol Biol (Noisy-le-grand). 2003 Jul;49(5):769-77. Review.

PMID:
14528914
17.

[Screening methods for the diagnosis of lysosomal storage disease].

Mutoh T, Kuriyama M.

Nihon Rinsho. 1995 Dec;53(12):2933-7. Review. Japanese.

PMID:
8577038
18.

Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects.

Garg U, Dasouki M.

Clin Biochem. 2006 Apr;39(4):315-32. Epub 2006 Mar 23. Review.

PMID:
16563365
19.

Tandem mass spectrometry in newborn screening: a primer for neonatal and perinatal nurses.

Banta-Wright SA, Steiner RD.

J Perinat Neonatal Nurs. 2004 Jan-Mar;18(1):41-58; quiz 59-60. Review.

PMID:
15027667
20.

Immunochemistry of lysosomal storage disorders.

Parkinson-Lawrence E, Fuller M, Hopwood JJ, Meikle PJ, Brooks DA.

Clin Chem. 2006 Sep;52(9):1660-8. Epub 2006 Jul 13. Review.

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