576 related articles for article (PubMed ID: 22231381)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.
Burlina AB; Polo G; Salviati L; Duro G; Zizzo C; Dardis A; Bembi B; Cazzorla C; Rubert L; Zordan R; Desnick RJ; Burlina AP
J Inherit Metab Dis; 2018 Mar; 41(2):209-219. PubMed ID: 29143201
[TBL] [Abstract][Full Text] [Related]
10. Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.
Kingma SD; Bodamer OA; Wijburg FA
Best Pract Res Clin Endocrinol Metab; 2015 Mar; 29(2):145-57. PubMed ID: 25987169
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Newborn screening in Latin America at the beginning of the 21st century.
Borrajo GJ
J Inherit Metab Dis; 2007 Aug; 30(4):466-81. PubMed ID: 17701285
[TBL] [Abstract][Full Text] [Related]
15. Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.
Bravo H; Neto EC; Schulte J; Pereira J; Filho CS; Bittencourt F; Sebastião F; Bender F; de Magalhães APS; Guidobono R; Trapp FB; Michelin-Tirelli K; Souza CFM; Rojas Málaga D; Pasqualim G; Brusius-Facchin AC; Giugliani R
Mol Genet Metab Rep; 2017 Sep; 12():92-97. PubMed ID: 28721335
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
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. Patients' perspectives on newborn screening for later-onset lysosomal storage diseases.
Lisi EC; Gillespie S; Laney D; Ali N
Mol Genet Metab; 2016 Sep; 119(1-2):109-14. PubMed ID: 27591925
[TBL] [Abstract][Full Text] [Related]
20. Newborn screening for lysosomal storage disorders.
Matern D
Acta Paediatr; 2008 Apr; 97(457):33-7. PubMed ID: 18339185
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
