181 related articles for article (PubMed ID: 36774918)
21. White matter lesions in treated late onset Pompe disease are not different to matched controls.
Schneider I; Hensel O; Zierz S
Mol Genet Metab; 2019 Jun; 127(2):128-131. PubMed ID: 31153821
[TBL] [Abstract][Full Text] [Related]
22. Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS; Gibson JB; Gambello MJ; Hillman R; Stockton DW; Kronn D; Leslie ND; Pena LDM; Tanpaiboon P; Day JW; Wang RY; Goldstein JL; An Haack K; Sparks SE; Zhao Y; Hahn SH;
Genet Med; 2019 Nov; 21(11):2543-2551. PubMed ID: 31086307
[TBL] [Abstract][Full Text] [Related]
23. 24-months results in two adults with Pompe disease on enzyme replacement therapy.
Vielhaber S; Brejova A; Debska-Vielhaber G; Kaufmann J; Feistner H; Schoenfeld MA; Awiszus F
Clin Neurol Neurosurg; 2011 Jun; 113(5):350-7. PubMed ID: 21477922
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.
Strothotte S; Strigl-Pill N; Grunert B; Kornblum C; Eger K; Wessig C; Deschauer M; Breunig F; Glocker FX; Vielhaber S; Brejova A; Hilz M; Reiners K; Müller-Felber W; Mengel E; Spranger M; Schoser B
J Neurol; 2010 Jan; 257(1):91-7. PubMed ID: 19649685
[TBL] [Abstract][Full Text] [Related]
26. Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy.
Oliveira Santos M; Evangelista T; Conceição I
Neuromuscul Disord; 2018 Nov; 28(11):965-968. PubMed ID: 30314719
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Current status of newborn screening for Pompe disease in Japan.
Sawada T; Kido J; Sugawara K; Momosaki K; Yoshida S; Kojima-Ishii K; Inoue T; Matsumoto S; Endo F; Ohga S; Hirose S; Nakamura K
Orphanet J Rare Dis; 2021 Dec; 16(1):516. PubMed ID: 34922579
[TBL] [Abstract][Full Text] [Related]
29. Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
Kishnani PS; Diaz-Manera J; Toscano A; Clemens PR; Ladha S; Berger KI; Kushlaf H; Straub V; Carvalho G; Mozaffar T; Roberts M; Attarian S; Chien YH; Choi YC; Day JW; Erdem-Ozdamar S; Illarioshkin S; Goker-Alpan O; Kostera-Pruszczyk A; van der Ploeg AT; An Haack K; Huynh-Ba O; Tammireddy S; Thibault N; Zhou T; Dimachkie MM; Schoser B;
JAMA Neurol; 2023 Jun; 80(6):558-567. PubMed ID: 37036722
[TBL] [Abstract][Full Text] [Related]
30. Post-hoc Nonparametric Analysis of Forced Vital Capacity in the COMET Trial Demonstrates Superiority of Avalglucosidase Alfa vs Alglucosidase Alfa.
Boentert M; Campana ES; Attarian S; Diaz-Manera J; Dimachkie MM; Periquet M; Thibault N; Miossec P; Zhou T; Berger KI
J Neuromuscul Dis; 2024; 11(2):369-374. PubMed ID: 38160363
[TBL] [Abstract][Full Text] [Related]
31. Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Löscher WN; Huemer M; Stulnig TM; Simschitz P; Iglseder S; Eggers C; Moser H; Möslinger D; Freilinger M; Lagler F; Grinzinger S; Reichhardt M; Bittner RE; Schmidt WM; Lex U; Brunner-Krainz M; Quasthoff S; Wanschitz JV
J Neurol; 2018 Jan; 265(1):159-164. PubMed ID: 29181627
[TBL] [Abstract][Full Text] [Related]
32. Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
Prater SN; Patel TT; Buckley AF; Mandel H; Vlodavski E; Banugaria SG; Feeney EJ; Raben N; Kishnani PS
Orphanet J Rare Dis; 2013 Jun; 8():90. PubMed ID: 23787031
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Improved efficacy of a next-generation ERT in murine Pompe disease.
Xu S; Lun Y; Frascella M; Garcia A; Soska R; Nair A; Ponery AS; Schilling A; Feng J; Tuske S; Valle MCD; Martina JA; Ralston E; Gotschall R; Valenzano KJ; Puertollano R; Do HV; Raben N; Khanna R
JCI Insight; 2019 Mar; 4(5):. PubMed ID: 30843882
[TBL] [Abstract][Full Text] [Related]
35. Effects of enzyme replacement therapy on bone density in late onset Pompe disease.
Avanti M; Martin A; Columbres RC; Mozaffar T; Kimonis V
Mol Genet Metab; 2023 Nov; 140(3):107644. PubMed ID: 37515933
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Population pharmacokinetic modeling and dosing simulation of avalglucosidase alfa for selecting alternative dosing regimen in pediatric patients with late-onset pompe disease.
Tiraboschi G; Marchionni D; Tuffal G; Fabre D; Martinez JM; Haack KA; Miossec P; Kittner B; Daba N; Hurbin F
J Pharmacokinet Pharmacodyn; 2023 Dec; 50(6):461-474. PubMed ID: 37535240
[TBL] [Abstract][Full Text] [Related]
38. Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.
Kishnani PS; Kronn D; Suwazono S; Broomfield A; Llerena J; Al-Hassnan ZN; Batista JL; Wilson KM; Periquet M; Daba N; Hahn A; Chien YH
Orphanet J Rare Dis; 2023 Dec; 18(1):381. PubMed ID: 38057861
[TBL] [Abstract][Full Text] [Related]
39. A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells.
Yoshida T; Awaya T; Jonouchi T; Kimura R; Kimura S; Era T; Heike T; Sakurai H
Sci Rep; 2017 Oct; 7(1):13473. PubMed ID: 29044175
[TBL] [Abstract][Full Text] [Related]
40. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.
Ditters IAM; Huidekoper HH; Kruijshaar ME; Rizopoulos D; Hahn A; Mongini TE; Labarthe F; Tardieu M; Chabrol B; Brassier A; Parini R; Parenti G; van der Beek NAME; van der Ploeg AT; van den Hout JMP;
Lancet Child Adolesc Health; 2022 Jan; 6(1):28-37. PubMed ID: 34822769
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
