These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 33657692)

  • 21. 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]  

  • 22. 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]  

  • 23. Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.
    Liu HX; Pu CQ; Shi Q; Zhang YT; Ban R
    Chin Med J (Engl); 2018 Feb; 131(4):448-453. PubMed ID: 29451150
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
    Semplicini C; Letard P; De Antonio M; Taouagh N; Perniconi B; Bouhour F; Echaniz-Laguna A; Orlikowski D; Sacconi S; Salort-Campana E; Solé G; Zagnoli F; Hamroun D; Froissart R; Caillaud C; Laforêt P;
    J Inherit Metab Dis; 2018 Nov; 41(6):937-946. PubMed ID: 30155607
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Analysis of lysosomal enzyme activity and genetic variants in a child with late-onset Pompe disease].
    He T; Jiang J; Xiong Y; Yu D; Zhang X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):711-717. PubMed ID: 37212008
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease.
    Li J; Cui Y; Wang X; Wang Q; Wang H; Yan B
    Int Heart J; 2020 Jan; 61(1):178-182. PubMed ID: 31875618
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
    Reuser AJJ; van der Ploeg AT; Chien YH; Llerena J; Abbott MA; Clemens PR; Kimonis VE; Leslie N; Maruti SS; Sanson BJ; Araujo R; Periquet M; Toscano A; Kishnani PS; On Behalf Of The Pompe Registry Sites
    Hum Mutat; 2019 Nov; 40(11):2146-2164. PubMed ID: 31342611
    [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. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
    Kroos MA; Pomponio RJ; Hagemans ML; Keulemans JL; Phipps M; DeRiso M; Palmer RE; Ausems MG; Van der Beek NA; Van Diggelen OP; Halley DJ; Van der Ploeg AT; Reuser AJ
    Neurology; 2007 Jan; 68(2):110-5. PubMed ID: 17210890
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study.
    Cerón-Rodríguez M; Castillo-García D; Acosta-Rodríguez-Bueno CP; Aguirre-Hernández J; Murillo-Eliosa JR; Valencia-Mayoral P; Escobar-Sánchez A; Salgado-Loza JL
    Mol Genet Genomic Med; 2022 Jul; 10(7):e1957. PubMed ID: 35532199
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.
    Er TK; Chen CC; Chien YH; Liang WC; Kan TM; Jong YJ
    Clin Chim Acta; 2014 Feb; 429():18-25. PubMed ID: 24444888
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy].
    Luo JH; Qiu WJ; Fang D; Ye J; Han LS; Zhang HW; Yu YG; Liang LL; Gu XF
    Zhonghua Er Ke Za Zhi; 2017 Jun; 55(6):423-427. PubMed ID: 28592009
    [No Abstract]   [Full Text] [Related]  

  • 36. Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
    Wan L; Lee CC; Hsu CM; Hwu WL; Yang CC; Tsai CH; Tsai FJ
    J Neurol; 2008 Jun; 255(6):831-8. PubMed ID: 18458862
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
    Herzog A; Hartung R; Reuser AJ; Hermanns P; Runz H; Karabul N; Gökce S; Pohlenz J; Kampmann C; Lampe C; Beck M; Mengel E
    Orphanet J Rare Dis; 2012 Jun; 7():35. PubMed ID: 22676651
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
    Johnson K; Töpf A; Bertoli M; Phillips L; Claeys KG; Stojanovic VR; Perić S; Hahn A; Maddison P; Akay E; Bastian AE; Łusakowska A; Kostera-Pruszczyk A; Lek M; Xu L; MacArthur DG; Straub V
    Orphanet J Rare Dis; 2017 Nov; 12(1):173. PubMed ID: 29149851
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
    Puri RD; Setia N; N V; Jagadeesh S; Nampoothiri S; Gupta N; Muranjan M; Bhat M; Girisha KM; Kabra M; Verma J; Thomas DC; Biji I; Raja J; Makkar R; Verma IC; Kishnani PS
    Neuromuscul Disord; 2021 May; 31(5):431-441. PubMed ID: 33741225
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
    Wens SC; Kroos MA; de Vries JM; Hoogeveen-Westerveld M; Wijgerde MG; van Doorn PA; van der Ploeg AT; Reuser AJ
    Mol Genet Metab; 2012 Nov; 107(3):485-9. PubMed ID: 23000108
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.