238 related articles for article (PubMed ID: 16712827)
1. 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. PubMed ID: 16712827
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 19111682
[TBL] [Abstract][Full Text] [Related]
3. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.
Chamoles NA; Niizawa G; Blanco M; Gaggioli D; Casentini C
Clin Chim Acta; 2004 Sep; 347(1-2):97-102. PubMed ID: 15313146
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 21415080
[TBL] [Abstract][Full Text] [Related]
5. 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; 536(2):344-7. PubMed ID: 24342658
[TBL] [Abstract][Full Text] [Related]
6. The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests.
Adam BW; Orsini JJ; Martin M; Hall EM; Zobel SD; Caggana M; Hannon WH
Clin Biochem; 2011 Jun; 44(8-9):704-10. PubMed ID: 21382365
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 23121383
[TBL] [Abstract][Full Text] [Related]
8. [The stability of freeze-drying lysosomal enzymes].
Guo Y; Boer M; Keulemans J; Geilen G; Galjaard H; van Diggelen OP
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1998 Jun; 15(3):167-9. PubMed ID: 9621127
[TBL] [Abstract][Full Text] [Related]
9. Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: a new tool for the identification of mucopolisaccharidosis IIIA and potentially other lysosomal disorders.
Civallero G; De Mari J; Viapiana Camelier M; Burin M; Giugliani R
Mol Genet Metab; 2013 Apr; 108(4):267-8. PubMed ID: 23485107
[TBL] [Abstract][Full Text] [Related]
10. 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; 424():12-8. PubMed ID: 23660237
[TBL] [Abstract][Full Text] [Related]
11. [Plasma chitotriosidase activity in Argentinian patients with Gaucher disease, various lysosomal diseases and other inherited metabolic disorders].
Dodelson de Kremer R; Paschini de Capra A; Angaroni CJ; Giner de Ayala A
Medicina (B Aires); 1997; 57(6):677-84. PubMed ID: 9674188
[TBL] [Abstract][Full Text] [Related]
12. A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders.
Gucciardi A; Legnini E; Di Gangi IM; Corbetta C; Tomanin R; Scarpa M; Giordano G
Biomed Chromatogr; 2014 Aug; 28(8):1131-9. PubMed ID: 24449175
[TBL] [Abstract][Full Text] [Related]
13. The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes.
Elbin CS; Olivova P; Marashio CA; Cooper SK; Cullen E; Keutzer JM; Zhang XK
Clin Chim Acta; 2011 Jun; 412(13-14):1207-12. PubMed ID: 21419758
[TBL] [Abstract][Full Text] [Related]
14. 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; 446():218-20. PubMed ID: 25944767
[TBL] [Abstract][Full Text] [Related]
15. Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper.
Olivova P; van der Veen K; Cullen E; Rose M; Zhang XK; Sims KB; Keutzer J; Browning MF
Clin Chim Acta; 2009 May; 403(1-2):159-62. PubMed ID: 19245803
[TBL] [Abstract][Full Text] [Related]
16. Newborn screening for lysosomal storage disorders.
Meikle PJ; Grasby DJ; Dean CJ; Lang DL; Bockmann M; Whittle AM; Fietz MJ; Simonsen H; Fuller M; Brooks DA; Hopwood JJ
Mol Genet Metab; 2006 Aug; 88(4):307-14. PubMed ID: 16600651
[TBL] [Abstract][Full Text] [Related]
17. Towards quality assurance in the determination of lysosomal enzymes: a two-centre study.
Lukacs Z; Keil A; Peters V; Kohlschütter A; Hoffmann GF; Cantz M; Kopitz J
J Inherit Metab Dis; 2003; 26(6):571-81. PubMed ID: 14605503
[TBL] [Abstract][Full Text] [Related]
18. Influence of pre-analytical factors on α-galactosidase A, arylsulfatase B and α-glucosidase activities measured on dried blood spots on filter paper.
de Castilhos CD; Mezzalira J; Goldim MP; Coelho JC
Clin Biochem; 2011 Jul; 44(10-11):922-6. PubMed ID: 21531218
[TBL] [Abstract][Full Text] [Related]
19. Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease.
Camelier M; Civallero G; De Mari J; Burin M; Giugliani R
Clin Chim Acta; 2015 Jan; 438():178-80. PubMed ID: 25193740
[TBL] [Abstract][Full Text] [Related]
20. Newborn screening for lysosomal storage disorders.
Meikle PJ; Ranieri E; Ravenscroft EM; Hua CT; Brooks DA; Hopwood JJ
Southeast Asian J Trop Med Public Health; 1999; 30 Suppl 2():104-10. PubMed ID: 11400743
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
