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Items: 1 to 20 of 106

1.
2.

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.

3.

Dried blood spots for the enzymatic diagnosis of lysosomal storage diseases in dogs and cats.

Sewell AC, Haskins ME, Giger U.

Vet Clin Pathol. 2012 Dec;41(4):548-57. doi: 10.1111/j.1939-165x.2012.00485.x. Epub 2012 Nov 2.

4.

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases.

Civallero G, Michelin K, de Mari J, Viapiana M, Burin M, Coelho JC, Giugliani R.

Clin Chim Acta. 2006 Oct;372(1-2):98-102. Epub 2006 May 18.

PMID:
16712827
5.

Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders.

Verma J, Thomas DC, Kasper DC, Sharma S, Puri RD, Bijarnia-Mahay S, Mistry PK, Verma IC.

JIMD Rep. 2017;31:15-27. doi: 10.1007/8904_2016_548. Epub 2016 Mar 24.

6.

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.

Tortorelli S, Turgeon CT, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Matern D.

Clin Chem. 2016 Sep;62(9):1248-54. doi: 10.1373/clinchem.2016.256255. Epub 2016 Jul 20.

PMID:
27440509
7.

Determination of the lysosomal hydrolase activity in blood collected on filter paper, an alternative to screen high risk populations.

Castilhos CD, Mezzalira J, Goldim MP, Daitx VV, Garcia Cda S, Andrade CV, Breier AC, Cé J, Mello AS, Coelho JC.

Gene. 2014 Feb 25;536(2):344-7. doi: 10.1016/j.gene.2013.11.101. Epub 2013 Dec 14.

PMID:
24342658
8.

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.

9.

Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots.

Gasparotto N, Tomanin R, Frigo AC, Niizawa G, Pasquini E, Blanco M, Donati MA, Keutzer J, Zacchello F, Scarpa M.

Clin Chim Acta. 2009 Apr;402(1-2):38-41. doi: 10.1016/j.cca.2008.12.006. Epub 2008 Dec 13.

PMID:
19111682
10.

Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease.

Suzuki Y.

Brain Dev. 2013 Jun;35(6):515-23. doi: 10.1016/j.braindev.2012.12.002. Epub 2013 Jan 3. Review.

PMID:
23290321
11.
12.

Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases.

Camelier M, De Mari J, Burin M, Civallero G, Giugliani R.

Clin Chim Acta. 2015 Jun 15;446:218-20. doi: 10.1016/j.cca.2015.04.034. Epub 2015 May 2.

PMID:
25944767
13.

Screening patients referred to a metabolic clinic for lysosomal storage disorders.

Fuller M, Tucker JN, Lang DL, Dean CJ, Fietz MJ, Meikle PJ, Hopwood JJ.

J Med Genet. 2011 Jun;48(6):422-5. doi: 10.1136/jmg.2010.088096. Epub 2011 Mar 17.

PMID:
21415080
14.

Effect of sample collection, temperature and time of storage on β-galactosidase and total hexosaminidase activities in dried blood collected on filter paper.

de Castilhos CD, Mezzalira J, Goldim MP, Werlang FG, Coelho JC.

Clin Chem Lab Med. 2011 Aug;49(8):1299-302. doi: 10.1515/CCLM.2011.193. Epub 2011 May 17.

PMID:
21574888
15.

Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots.

Supriya M, De T, Christopher R.

J Clin Lab Anal. 2017 Mar 27. doi: 10.1002/jcla.22220. [Epub ahead of print]

PMID:
28345760
16.

[Enzyme replacement therapy of lysosomal storage diseases].

Germain DP, Boucly C, Carlier RY, Caudron E, Charlier P, Colas F, Jabbour F, Martinez V, Mokhtari S, Orlikowski D, Pellegrini N, Perronne C, Prigent H, Rubinsztajn R, Benistan K.

Rev Med Interne. 2010 Dec;31 Suppl 2:S279-91. doi: 10.1016/S0248-8663(10)70028-X. French.

PMID:
21211680
17.

Reference intervals of α-glycosidase, β-glycosidase, and α-galactosidase in dried blood spot in a Turkish newborn population.

Aldemir O, Ergun P, Güneş S, Köroğlu OA, Yalaz M, Kültürsay N, Coker M, Sözmen EY.

Eur J Pediatr. 2013 Sep;172(9):1221-7. doi: 10.1007/s00431-013-2026-3. Epub 2013 May 10.

PMID:
23661235
18.

Methods for Determination of α-Glycosidase, β-Glycosidase, and α-Galactosidase Activities in Dried Blood Spot Samples.

Sozmen EY, Sezer ED.

Methods Mol Biol. 2017;1594:255-264. doi: 10.1007/978-1-4939-6934-0_17.

PMID:
28456989
19.

Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders.

Umapathysivam K, Whittle AM, Ranieri E, Bindloss C, Ravenscroft EM, van Diggelen OP, Hopwood JJ, Meikle PJ.

Clin Chem. 2000 Sep;46(9):1318-25.

20.

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening.

Li Y, Scott CR, Chamoles NA, Ghavami A, Pinto BM, Turecek F, Gelb MH.

Clin Chem. 2004 Oct;50(10):1785-96. Epub 2004 Aug 3.

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