292 related articles for article (PubMed ID: 31392202)
1. Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.
Byrne BJ; Fuller DD; Smith BK; Clement N; Coleman K; Cleaver B; Vaught L; Falk DJ; McCall A; Corti M
Ann Transl Med; 2019 Jul; 7(13):290. PubMed ID: 31392202
[TBL] [Abstract][Full Text] [Related]
2. Gene Therapy for Pompe Disease: The Time is now.
Colella P; Mingozzi F
Hum Gene Ther; 2019 Oct; 30(10):1245-1262. PubMed ID: 31298581
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Pompe disease gene therapy.
Byrne BJ; Falk DJ; Pacak CA; Nayak S; Herzog RW; Elder ME; Collins SW; Conlon TJ; Clement N; Cleaver BD; Cloutier DA; Porvasnik SL; Islam S; Elmallah MK; Martin A; Smith BK; Fuller DD; Lawson LA; Mah CS
Hum Mol Genet; 2011 Apr; 20(R1):R61-8. PubMed ID: 21518733
[TBL] [Abstract][Full Text] [Related]
6. The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.
Kishnani PS; Beckemeyer AA; Mendelsohn NJ
Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):1-7. PubMed ID: 22253049
[TBL] [Abstract][Full Text] [Related]
7. Progress and challenges of gene therapy for Pompe disease.
Ronzitti G; Collaud F; Laforet P; Mingozzi F
Ann Transl Med; 2019 Jul; 7(13):287. PubMed ID: 31392199
[TBL] [Abstract][Full Text] [Related]
8. A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
Fukuhara Y; Fuji N; Yamazaki N; Hirakiyama A; Kamioka T; Seo JH; Mashima R; Kosuga M; Okuyama T
Mol Genet Metab Rep; 2018 Mar; 14():3-9. PubMed ID: 29124014
[TBL] [Abstract][Full Text] [Related]
9. Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy.
Muñoz S; Bertolin J; Jimenez V; Jaén ML; Garcia M; Pujol A; Vilà L; Sacristan V; Barbon E; Ronzitti G; El Andari J; Tulalamba W; Pham QH; Ruberte J; VandenDriessche T; Chuah MK; Grimm D; Mingozzi F; Bosch F
Mol Metab; 2024 Mar; 81():101899. PubMed ID: 38346589
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report.
Zhang Y; Zhang C; Shu JB; Zhang F
World J Clin Cases; 2022 Apr; 10(10):3278-3283. PubMed ID: 35603335
[TBL] [Abstract][Full Text] [Related]
12. Multisystem late onset Pompe disease (LOPD): an update on clinical aspects.
Toscano A; Rodolico C; Musumeci O
Ann Transl Med; 2019 Jul; 7(13):284. PubMed ID: 31392196
[TBL] [Abstract][Full Text] [Related]
13. Long-term outcome and unmet needs in infantile-onset Pompe disease.
Hahn A; Schänzer A
Ann Transl Med; 2019 Jul; 7(13):283. PubMed ID: 31392195
[TBL] [Abstract][Full Text] [Related]
14. Pompe disease: early diagnosis and early treatment make a difference.
Chien YH; Hwu WL; Lee NC
Pediatr Neonatol; 2013 Aug; 54(4):219-27. PubMed ID: 23632029
[TBL] [Abstract][Full Text] [Related]
15. Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives.
El Haddad L; Khan M; Soufny R; Mummy D; Driehuys B; Mansour W; Kishnani PS; ElMallah MK
Ther Clin Risk Manag; 2023; 19():713-729. PubMed ID: 37680303
[TBL] [Abstract][Full Text] [Related]
16. The emerging phenotype of late-onset Pompe disease: A systematic literature review.
Chan J; Desai AK; Kazi ZB; Corey K; Austin S; Hobson-Webb LD; Case LE; Jones HN; Kishnani PS
Mol Genet Metab; 2017 Mar; 120(3):163-172. PubMed ID: 28185884
[TBL] [Abstract][Full Text] [Related]
17. The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
Al-Hassnan ZN; Khalifa OA; Bubshait DK; Tulbah S; Alkorashy M; Alzaidan H; Alowain M; Rahbeeni Z; Al-Sayed M
Mol Genet Metab Rep; 2018 Jun; 15():50-54. PubMed ID: 30023291
[TBL] [Abstract][Full Text] [Related]
18. Gene Therapy Developments for Pompe Disease.
Unnisa Z; Yoon JK; Schindler JW; Mason C; van Til NP
Biomedicines; 2022 Jan; 10(2):. PubMed ID: 35203513
[TBL] [Abstract][Full Text] [Related]
19. The Clinical Management of Pompe Disease: A Pediatric Perspective.
Marques JS
Children (Basel); 2022 Sep; 9(9):. PubMed ID: 36138713
[TBL] [Abstract][Full Text] [Related]
20. The impact of antibodies in late-onset Pompe disease: a case series and literature review.
Patel TT; Banugaria SG; Case LE; Wenninger S; Schoser B; Kishnani PS
Mol Genet Metab; 2012 Jul; 106(3):301-9. PubMed ID: 22613277
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]