298 related articles for article (PubMed ID: 33938615)
1. 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]
2. 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]
3. 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]
4. Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.
Davids L; Sun Y; Moore RH; Lisi E; Wittenauer A; Wilcox WR; Ali N
Mol Genet Metab; 2021; 134(1-2):20-28. PubMed ID: 34602357
[TBL] [Abstract][Full Text] [Related]
5. Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis.
Prakash S; Penn JD; Jackson KE; Dean LW
J Genet Couns; 2022 Dec; 31(6):1404-1420. PubMed ID: 35915971
[TBL] [Abstract][Full Text] [Related]
6. Newborn screening for Pompe disease: impact on families.
Pruniski B; Lisi E; Ali N
J Inherit Metab Dis; 2018 Nov; 41(6):1189-1203. PubMed ID: 29594646
[TBL] [Abstract][Full Text] [Related]
7. The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey.
Mengel E; Gaedeke J; Gothe H; Krupka S; Lachmann A; Reinke J; Ohlmeier C
PLoS One; 2020; 15(12):e0244279. PubMed ID: 33382737
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
Rairikar MV; Case LE; Bailey LA; Kazi ZB; Desai AK; Berrier KL; Coats J; Gandy R; Quinones R; Kishnani PS
Mol Genet Metab; 2017 Nov; 122(3):99-107. PubMed ID: 28951071
[TBL] [Abstract][Full Text] [Related]
12. Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri.
Hopkins PV; Campbell C; Klug T; Rogers S; Raburn-Miller J; Kiesling J
J Pediatr; 2015 Jan; 166(1):172-7. PubMed ID: 25444528
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state-of-the art review.
Jezela-Stanek A; Chorostowska-Wynimko J; Tylki-Szymańska A
Clin Respir J; 2020 May; 14(5):422-429. PubMed ID: 31912638
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Treatable lysosomal storage diseases in the advent of disease-specific therapy.
Peters H; Ellaway C; Nicholls K; Reardon K; Szer J
Intern Med J; 2020 Nov; 50 Suppl 4():5-27. PubMed ID: 33210402
[TBL] [Abstract][Full Text] [Related]
18. Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.
Liao HC; Chiang CC; Niu DM; Wang CH; Kao SM; Tsai FJ; Huang YH; Liu HC; Huang CK; Gao HJ; Yang CF; Chan MJ; Lin WD; Chen YJ
Clin Chim Acta; 2014 Apr; 431():80-6. PubMed ID: 24513544
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]