335 related articles for article (PubMed ID: 36310651)
21. Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.
Pillai NR; Fabie NAV; Kaye TV; Rosendahl SD; Ahmed A; Hietala AD; Jorgenson AB; Lanpher BC; Whitley CB
Mol Genet Metab; 2023; 140(1-2):107633. PubMed ID: 37414610
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. 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]
26. 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]
27. 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]
28. Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Saville JT; Fuller M
Metabolites; 2021 Jul; 11(7):. PubMed ID: 34357340
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. 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]
32. High-risk screening of late-onset Pompe disease: A different early portrait in China.
Jiao K; Dong J; Luo S; Yu L; Ke Q; Wang Z; Luan X; Zhang X; Guo J; Chen Y; Li X; Tan S; Qian F; Jiang J; Yu X; Yue D; Liu C; Luo L; Li J; Qu Y; Chen L; Tu J; Sun C; Yan C; Song J; Xi J; Lin J; Lu J; Zhao C; Zhu W; Fang Q
Front Neurol; 2022; 13():965207. PubMed ID: 36237614
[TBL] [Abstract][Full Text] [Related]
33. Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review.
Schoser B; Raben N; Varfaj F; Walzer M; Toscano A
Mol Genet Metab Rep; 2024 Jun; 39():101085. PubMed ID: 38698877
[TBL] [Abstract][Full Text] [Related]
34. Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.
Kim MS; Song A; Im M; Huh J; Kang IS; Song J; Yang A; Kim J; Kwon EK; Choi EJ; Han SJ; Park HD; Cho SY; Jin DK
Korean J Pediatr; 2019 Jun; 62(6):224-234. PubMed ID: 30360039
[TBL] [Abstract][Full Text] [Related]
35. Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Chan MY; Jalil JA; Yakob Y; Wahab SAA; Ali EZ; Khalid MKNM; Leong HY; Chew HB; Sivabalakrishnan JB; Ngu LH
Orphanet J Rare Dis; 2023 Aug; 18(1):231. PubMed ID: 37542277
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara L; Wattanasirichaigoon D; Tim-Aroon T; Rojnueangnit K; Noojaroen S; Khongkraparn A; Sawangareetrakul P; Ketudat-Cairns JR; Charoenwattanasatien R; Champattanachai V; Kuptanon C; Pangkanon S; Svasti J
BMC Med Genet; 2019 Sep; 20(1):156. PubMed ID: 31510962
[TBL] [Abstract][Full Text] [Related]
38. A Comprehensive Update on Late-Onset Pompe Disease.
Labella B; Cotti Piccinelli S; Risi B; Caria F; Damioli S; Bertella E; Poli L; Padovani A; Filosto M
Biomolecules; 2023 Aug; 13(9):. PubMed ID: 37759679
[TBL] [Abstract][Full Text] [Related]
39. Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.
Zhao HH; Ma Z; Ying ZX; Niu FN; Luo MT; Wang Z; Cheng X; Zhang QQ; Niu Q
Ann Transl Med; 2021 Dec; 9(24):1803. PubMed ID: 35071497
[TBL] [Abstract][Full Text] [Related]
40. A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.
Crossen K; Berry L; Myers MF; Leslie N; Goueli C
Int J Neonatal Screen; 2022 Jul; 8(3):. PubMed ID: 35892473
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]