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 *

145 related articles for article (PubMed ID: 24144148)

  • 21. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
    Chien YH; Chiang SC; Zhang XK; Keutzer J; Lee NC; Huang AC; Chen CA; Wu MH; Huang PH; Tsai FJ; Chen YT; Hwu WL
    Pediatrics; 2008 Jul; 122(1):e39-45. PubMed ID: 18519449
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. [Diagnosis and Management of Late-Onset Pompe Disease].
    Hahn P; Siefen RG; Benz K; Jackowski J; Köhler C; Lücke T
    Fortschr Neurol Psychiatr; 2024 Jan; 92(1-02):33-40. PubMed ID: 37494148
    [TBL] [Abstract][Full Text] [Related]  

  • 24. The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-α-glucosidase in Pompe's iPSCs.
    Higuchi T; Kawagoe S; Otsu M; Shimada Y; Kobayashi H; Hirayama R; Eto K; Ida H; Ohashi T; Nakauchi H; Eto Y
    Mol Genet Metab; 2014 May; 112(1):44-8. PubMed ID: 24642446
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].
    Zhang HB; Zhang WM; Qiu JJ; Meng Y; Qiu ZQ
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):415-9. PubMed ID: 22931935
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Juvenile Pompe disease: retrospective clinical study].
    Loureiro Neves F; Garcia PC; Madureira N; Araújo H; Rodrigues F; Estêvão MH; Lacerda L; Diogo Matos LM
    Acta Med Port; 2013; 26(4):361-70. PubMed ID: 24016645
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Should patients with asymptomatic pompe disease be treated? A nationwide study in France.
    Echaniz-Laguna A; Carlier RY; Laloui K; Carlier P; Salort-Campana E; Pouget J; Laforet P
    Muscle Nerve; 2015 Jun; 51(6):884-9. PubMed ID: 25786784
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Towards a molecular therapy for glycogen storage disease type II (Pompe disease).
    Chen YT; Amalfitano A
    Mol Med Today; 2000 Jun; 6(6):245-51. PubMed ID: 10840383
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.
    Young SP; Piraud M; Goldstein JL; Zhang H; Rehder C; Laforet P; Kishnani PS; Millington DS; Bashir MR; Bali DS
    Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):50-8. PubMed ID: 22252961
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Pompe disease: design, methodology, and early findings from the Pompe Registry.
    Byrne BJ; Kishnani PS; Case LE; Merlini L; Müller-Felber W; Prasad S; van der Ploeg A
    Mol Genet Metab; 2011 May; 103(1):1-11. PubMed ID: 21439876
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.
    Boentert M; Prigent H; Várdi K; Jones HN; Mellies U; Simonds AK; Wenninger S; Barrot Cortés E; Confalonieri M
    Int J Mol Sci; 2016 Oct; 17(10):. PubMed ID: 27763517
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up.
    Spiridigliozzi GA; Heller JH; Kishnani PS
    Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):22-9. PubMed ID: 22253038
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.
    ; Winchester B; Bali D; Bodamer OA; Caillaud C; Christensen E; Cooper A; Cupler E; Deschauer M; Fumić K; Jackson M; Kishnani P; Lacerda L; Ledvinová J; Lugowska A; Lukacs Z; Maire I; Mandel H; Mengel E; Müller-Felber W; Piraud M; Reuser A; Rupar T; Sinigerska I; Szlago M; Verheijen F; van Diggelen OP; Wuyts B; Zakharova E; Keutzer J
    Mol Genet Metab; 2008 Mar; 93(3):275-81. PubMed ID: 18078773
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. The role of immune tolerance induction in restoration of the efficacy of ERT in Pompe disease.
    Lacaná E; Yao LP; Pariser AR; Rosenberg AS
    Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):30-9. PubMed ID: 22253234
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Infantile-onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response.
    Owens P; Wong M; Bhattacharya K; Ellaway C
    J Paediatr Child Health; 2018 Nov; 54(11):1255-1261. PubMed ID: 29889338
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.
    Pascual SI
    Adv Exp Med Biol; 2009; 652():39-46. PubMed ID: 20225018
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease).
    Rohman PJ; Scott E; Richfield L; Ramaswami U; Hughes DA
    J Obstet Gynaecol Res; 2016 Oct; 42(10):1263-1271. PubMed ID: 27384519
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
    van der Beek NA; Hagemans ML; van der Ploeg AT; Reuser AJ; van Doorn PA
    Acta Neurol Belg; 2006 Jun; 106(2):82-6. PubMed ID: 16898258
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Diagnosing lysosomal storage disorders: Pompe disease.
    Bodamer OA; Dajnoki A
    Curr Protoc Hum Genet; 2012 Oct; Chapter 17():Unit17.11. PubMed ID: 23074069
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.