272 related articles for article (PubMed ID: 28480166)
1. Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.
Chien YH; Hwu WL; Lee NC; Tsai FJ; Koeberl DD; Tsai WH; Chiu PC; Chang CL
Mol Genet Metab Rep; 2017 Jun; 11():31-35. PubMed ID: 28480166
[TBL] [Abstract][Full Text] [Related]
2. Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V; Pijnappel PWWM; Burlina AP; In 't Groen SLM; Gueraldi D; Cazzorla C; Maines E; Polo G; Salviati L; Di Salvo G; Burlina AB
Mol Genet Metab Rep; 2022 Dec; 33():100929. PubMed ID: 36310651
[TBL] [Abstract][Full Text] [Related]
3. Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences.
Chien YH; Tsai WH; Chang CL; Chiu PC; Chou YY; Tsai FJ; Wong SL; Lee NC; Hwu WL
Mol Genet Metab Rep; 2020 Jun; 23():100591. PubMed ID: 32373469
[TBL] [Abstract][Full Text] [Related]
4. Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.
Koeberl DD; Austin S; Case LE; Smith EC; Buckley AF; Young SP; Bali D; Kishnani PS
FASEB J; 2014 May; 28(5):2171-6. PubMed ID: 24443373
[TBL] [Abstract][Full Text] [Related]
5. Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
Desai AK; Kazi ZB; Bali DS; Kishnani PS
Mol Genet Metab Rep; 2019 Sep; 20():100475. PubMed ID: 31193175
[TBL] [Abstract][Full Text] [Related]
6. A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation.
Curelaru S; Desai AK; Fink D; Zehavi Y; Kishnani PS; Spiegel R
Mol Genet Metab Rep; 2022 Sep; 32():100893. PubMed ID: 35813979
[TBL] [Abstract][Full Text] [Related]
7. Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.
Chien YH; Goldstein JL; Hwu WL; Smith PB; Lee NC; Chiang SC; Tolun AA; Zhang H; Vaisnins AE; Millington DS; Kishnani PS; Young SP
JIMD Rep; 2015; 19():67-73. PubMed ID: 25681082
[TBL] [Abstract][Full Text] [Related]
8. A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.
Wang Z; Okamoto P; Keutzer J
Mol Genet Metab; 2014 Feb; 111(2):92-100. PubMed ID: 24044919
[TBL] [Abstract][Full Text] [Related]
9. Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R; De Lorenzo P; Dardis A; Burlina A; Cassio A; Cavarzere P; Concolino D; Della Casa R; Deodato F; Donati MA; Fiumara A; Gasperini S; Menni F; Pagliardini V; Sacchini M; Spada M; Taurisano R; Valsecchi MG; Di Rocco M; Bembi B
Orphanet J Rare Dis; 2018 Feb; 13(1):32. PubMed ID: 29422078
[TBL] [Abstract][Full Text] [Related]
10. Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.
Matsuoka T; Miwa Y; Tajika M; Sawada M; Fujimaki K; Soga T; Tomita H; Uemura S; Nishino I; Fukuda T; Sugie H; Kosuga M; Okuyama T; Umeda Y
Mol Genet Metab Rep; 2016 Dec; 9():98-105. PubMed ID: 27896132
[TBL] [Abstract][Full Text] [Related]
11. The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
Tocan V; Mushimoto Y; Kojima-Ishii K; Matsuda A; Toda N; Toyomura D; Hirata Y; Sanefuji M; Sawada T; Sakai Y; Nakamura K; Ohga S
Pediatr Int; 2022 Jan; 64(1):e15286. PubMed ID: 36074069
[TBL] [Abstract][Full Text] [Related]
12. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment.
Yang CF; Liu HC; Hsu TR; Tsai FC; Chiang SF; Chiang CC; Ho HC; Lai CJ; Yang TF; Chuang SY; Lin CY; Niu DM
Am J Med Genet A; 2014 Jan; 164A(1):54-61. PubMed ID: 24243590
[TBL] [Abstract][Full Text] [Related]
13. The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan.
Chiang SC; Chien YH; Chang KL; Lee NC; Hwu WL
Int J Neonatal Screen; 2020 Jun; 6(2):30. PubMed ID: 33073026
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.
Al-Hassnan Z; Hashmi NA; Makhseed N; Omran TB; Al Jasmi F; Teneiji AA
Orphanet J Rare Dis; 2022 Oct; 17(1):388. PubMed ID: 36303251
[TBL] [Abstract][Full Text] [Related]
16. Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up.
Park JS; Kim HG; Shin JH; Choi YC; Kim DS
Neurol Sci; 2015 Apr; 36(4):599-605. PubMed ID: 25388776
[TBL] [Abstract][Full Text] [Related]
17. Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Hahn SH; Kronn D; Leslie ND; Pena LDM; Tanpaiboon P; Gambello MJ; Gibson JB; Hillman R; Stockton DW; Day JW; Wang RY; An Haack K; Shafi R; Sparks S; Zhao Y; Wilson C; Kishnani PS;
Genet Med; 2018 Oct; 20(10):1284-1294. PubMed ID: 29565424
[TBL] [Abstract][Full Text] [Related]
18. Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.
Van den Hout JM; Kamphoven JH; Winkel LP; Arts WF; De Klerk JB; Loonen MC; Vulto AG; Cromme-Dijkhuis A; Weisglas-Kuperus N; Hop W; Van Hirtum H; Van Diggelen OP; Boer M; Kroos MA; Van Doorn PA; Van der Voort E; Sibbles B; Van Corven EJ; Brakenhoff JP; Van Hove J; Smeitink JA; de Jong G; Reuser AJ; Van der Ploeg AT
Pediatrics; 2004 May; 113(5):e448-57. PubMed ID: 15121988
[TBL] [Abstract][Full Text] [Related]
19. β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.
Koeberl DD; Li S; Dai J; Thurberg BL; Bali D; Kishnani PS
Mol Genet Metab; 2012 Feb; 105(2):221-7. PubMed ID: 22154081
[TBL] [Abstract][Full Text] [Related]
20. Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS; Desai AK; Lelias S; Miah SMS; Terry FE; Khan S; Li C; Yi JS; Ardito M; Martin WD; Kishnani PS
Front Immunol; 2021; 12():636731. PubMed ID: 34220802
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
