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 *

154 related articles for article (PubMed ID: 31101460)

  • 1. Severe distal muscle involvement and mild sensory neuropathy in a boy with infantile onset Pompe disease treated with enzyme replacement therapy for 6 years.
    Schänzer A; Görlach J; Claudi K; Hahn A
    Neuromuscul Disord; 2019 Jun; 29(6):477-482. PubMed ID: 31101460
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.
    Case LE; Beckemeyer AA; Kishnani PS
    Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):69-79. PubMed ID: 22252989
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.
    van der Ploeg A; Carlier PG; Carlier RY; Kissel JT; Schoser B; Wenninger S; Pestronk A; Barohn RJ; Dimachkie MM; Goker-Alpan O; Mozaffar T; Pena LD; Simmons Z; Straub V; Guglieri M; Young P; Boentert M; Baudin PY; Wens S; Shafi R; Bjartmar C; Thurberg BL
    Mol Genet Metab; 2016 Sep; 119(1-2):115-23. PubMed ID: 27473031
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.
    Peng SS; Hwu WL; Lee NC; Tsai FJ; Tsai WH; Chien YH
    Orphanet J Rare Dis; 2016 May; 11(1):63. PubMed ID: 27183828
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Quantification of muscle pathology in infantile Pompe disease.
    Schänzer A; Kaiser AK; Mühlfeld C; Kulessa M; Paulus W; von Pein H; Rohrbach M; Viergutz L; Mengel E; Marquardt T; Neubauer B; Acker T; Hahn A
    Neuromuscul Disord; 2017 Feb; 27(2):141-152. PubMed ID: 27927596
    [TBL] [Abstract][Full Text] [Related]  

  • 9. High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease.
    Ishigaki K; Yoshikawa Y; Kuwatsuru R; Oda E; Murakami T; Sato T; Saito T; Umezu R; Osawa M
    Brain Dev; 2012 Feb; 34(2):103-6. PubMed ID: 21704464
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical features of Pompe disease with motor neuronopathy.
    Tsai LK; Hwu WL; Lee NC; Huang PH; Chien YH
    Neuromuscul Disord; 2019 Nov; 29(11):903-906. PubMed ID: 31706699
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.
    Wang Z; Okamoto P; Keutzer J
    Mol Genet Metab; 2014 Feb; 111(2):92-100. PubMed ID: 24044919
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
    Ripolone M; Violano R; Ronchi D; Mondello S; Nascimbeni A; Colombo I; Fagiolari G; Bordoni A; Fortunato F; Lucchini V; Saredi S; Filosto M; Musumeci O; Tonin P; Mongini T; Previtali S; Morandi L; Angelini C; Mora M; Sandri M; Sciacco M; Toscano A; Comi GP; Moggio M
    Neuropathol Appl Neurobiol; 2018 Aug; 44(5):449-462. PubMed ID: 28574618
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Enzyme Replacement Therapy for Pompe Disease: The Long-Term Efficacy and Limitation].
    Fukuda T; Sugie H
    Brain Nerve; 2015 Sep; 67(9):1091-8. PubMed ID: 26329149
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.
    Chien YH; Lee NC; Peng SF; Hwu WL
    Pediatr Res; 2006 Sep; 60(3):349-52. PubMed ID: 16857770
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.
    Desai AK; Walters CK; Cope HL; Kazi ZB; DeArmey SM; Kishnani PS
    Mol Genet Metab; 2018 Feb; 123(2):92-96. PubMed ID: 29289479
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
    van der Meijden JC; Kruijshaar ME; Harlaar L; Rizopoulos D; van der Beek NAME; van der Ploeg AT
    J Inherit Metab Dis; 2018 Nov; 41(6):1205-1214. PubMed ID: 29556838
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Distal muscle weakness is a common and early feature in long-term enzyme-treated classic infantile Pompe patients.
    van den Dorpel JJA; Poelman E; Harlaar L; van Kooten HA; van der Giessen LJ; van Doorn PA; van der Ploeg AT; van den Hout JMP; van der Beek NAME
    Orphanet J Rare Dis; 2020 Sep; 15(1):247. PubMed ID: 32928284
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 8.