300 related articles for article (PubMed ID: 20532820)
1. Newborn screening for neuropathic lysosomal storage disorders.
Hwu WL; Chien YH; Lee NC
J Inherit Metab Dis; 2010 Aug; 33(4):381-6. PubMed ID: 20532820
[TBL] [Abstract][Full Text] [Related]
2. Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.
Navarrete-Martínez JI; Limón-Rojas AE; Gaytán-García MJ; Reyna-Figueroa J; Wakida-Kusunoki G; Delgado-Calvillo MDR; Cantú-Reyna C; Cruz-Camino H; Cervantes-Barragán DE
Mol Genet Metab; 2017 May; 121(1):16-21. PubMed ID: 28302345
[TBL] [Abstract][Full Text] [Related]
3. Expanding newborn screening for lysosomal disorders: opportunities and challenges.
Waggoner DJ; Tan CA
Dev Disabil Res Rev; 2011; 17(1):9-14. PubMed ID: 22447749
[TBL] [Abstract][Full Text] [Related]
4. Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.
Giugliani R
J Inherit Metab Dis; 2012 Sep; 35(5):871-7. PubMed ID: 22231381
[TBL] [Abstract][Full Text] [Related]
5. Newborn screening for lysosomal storage disorders.
Nakamura K; Hattori K; Endo F
Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):63-71. PubMed ID: 21312327
[TBL] [Abstract][Full Text] [Related]
6. The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Wasserstein MP; Caggana M; Bailey SM; Desnick RJ; Edelmann L; Estrella L; Holzman I; Kelly NR; Kornreich R; Kupchik SG; Martin M; Nafday SM; Wasserman R; Yang A; Yu C; Orsini JJ
Genet Med; 2019 Mar; 21(3):631-640. PubMed ID: 30093709
[TBL] [Abstract][Full Text] [Related]
7. Newborn screening of lysosomal storage disorders.
Marsden D; Levy H
Clin Chem; 2010 Jul; 56(7):1071-9. PubMed ID: 20489136
[TBL] [Abstract][Full Text] [Related]
8. Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.
Lisi EC; McCandless SE
J Genet Couns; 2016 Apr; 25(2):373-84. PubMed ID: 26315880
[TBL] [Abstract][Full Text] [Related]
9. Opinions of adults affected with later-onset lysosomal storage diseases regarding newborn screening: A qualitative study.
Lisi EC; Ali N
J Genet Couns; 2021 Dec; 30(6):1544-1558. PubMed ID: 33938615
[TBL] [Abstract][Full Text] [Related]
10. Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications.
La Cognata V; Guarnaccia M; Morello G; Ruggieri M; Polizzi A; Cavallaro S
Int J Mol Sci; 2021 Sep; 22(18):. PubMed ID: 34576242
[TBL] [Abstract][Full Text] [Related]
11. Cut-off values of neonatal lysosomal storage disease-related enzymes detected by tandem mass spectrometry.
Li G; Tian L; Guo Y; Li Y; Sun M; Zou H
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2022 Jun; 51(3):321-325. PubMed ID: 35462462
[TBL] [Abstract][Full Text] [Related]
12. The future of newborn screening for lysosomal disorders.
Wasserstein MP; Orsini JJ; Goldenberg A; Caggana M; Levy PA; Breilyn M; Gelb MH
Neurosci Lett; 2021 Aug; 760():136080. PubMed ID: 34166724
[TBL] [Abstract][Full Text] [Related]
13. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.
Mechtler TP; Stary S; Metz TF; De Jesús VR; Greber-Platzer S; Pollak A; Herkner KR; Streubel B; Kasper DC
Lancet; 2012 Jan; 379(9813):335-41. PubMed ID: 22133539
[TBL] [Abstract][Full Text] [Related]
14. Highlights on Genomics Applications for Lysosomal Storage Diseases.
La Cognata V; Guarnaccia M; Polizzi A; Ruggieri M; Cavallaro S
Cells; 2020 Aug; 9(8):. PubMed ID: 32824006
[TBL] [Abstract][Full Text] [Related]
15. Newborn Screening for 6 Lysosomal Storage Disorders in China.
Chang S; Zhan X; Liu Y; Song H; Gong Z; Han L; Maegawa GHB; Gu X; Zhang H
JAMA Netw Open; 2024 May; 7(5):e2410754. PubMed ID: 38739391
[TBL] [Abstract][Full Text] [Related]
16. Screening for lysosomal storage disorders--a clinical perspective.
Fletcher JM
J Inherit Metab Dis; 2006; 29(2-3):405-8. PubMed ID: 16763909
[TBL] [Abstract][Full Text] [Related]
17. Newborn Screening for Lysosomal Storage Disorders.
Anderson S
J Pediatr Health Care; 2018; 32(3):285-294. PubMed ID: 29678259
[TBL] [Abstract][Full Text] [Related]
18. Current strategies in the management of lysosomal storage diseases.
Heese BA
Semin Pediatr Neurol; 2008 Sep; 15(3):119-26. PubMed ID: 18708002
[TBL] [Abstract][Full Text] [Related]
19. Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
Elliott S; Buroker N; Cournoyer JJ; Potier AM; Trometer JD; Elbin C; Schermer MJ; Kantola J; Boyce A; Turecek F; Gelb MH; Scott CR
Mol Genet Metab; 2016 Aug; 118(4):304-9. PubMed ID: 27238910
[TBL] [Abstract][Full Text] [Related]
20. Newborn screening of mucopolysaccharidoses: past, present, and future.
Arunkumar N; Langan TJ; Stapleton M; Kubaski F; Mason RW; Singh R; Kobayashi H; Yamaguchi S; Suzuki Y; Orii K; Orii T; Fukao T; Tomatsu S
J Hum Genet; 2020 Jul; 65(7):557-567. PubMed ID: 32277174
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
