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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

378 related items for PubMed ID: 31086307

  • 21. 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 09; 68(2):110-5. PubMed ID: 17210890
    [Abstract] [Full Text] [Related]

  • 22.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 23. Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease.
    Case LE, Bjartmar C, Morgan C, Casey R, Charrow J, Clancy JP, Dasouki M, DeArmey S, Nedd K, Nevins M, Peters H, Phillips D, Spigelman Z, Tifft C, Kishnani PS.
    Neuromuscul Disord; 2015 Apr 09; 25(4):321-32. PubMed ID: 25617983
    [Abstract] [Full Text] [Related]

  • 24. 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 18; 16(1):516. PubMed ID: 34922579
    [Abstract] [Full Text] [Related]

  • 25. 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 18; 31(5):431-441. PubMed ID: 33741225
    [Abstract] [Full Text] [Related]

  • 26.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 27. Gene Therapy for Pompe Disease: The Time is now.
    Colella P, Mingozzi F.
    Hum Gene Ther; 2019 Oct 18; 30(10):1245-1262. PubMed ID: 31298581
    [Abstract] [Full Text] [Related]

  • 28. Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
    Napolitano F, Bruno G, Terracciano C, Franzese G, Palomba NP, Scotto di Carlo F, Signoriello E, De Blasiis P, Navarro S, Gialluisi A, Melone MAB, Sampaolo S, Esposito T.
    Int J Mol Sci; 2021 Mar 31; 22(7):. PubMed ID: 33807278
    [Abstract] [Full Text] [Related]

  • 29. Model-Informed Approach Supporting Approval of Nexviazyme (Avalglucosidase Alfa-ngpt) in Pediatric Patients with Late-Onset Pompe Disease.
    Li RJ, Ma L, Drozda K, Wang J, Punnoose AR, Jeng LJB, Maynard JW, Zhu H, Pacanowski M.
    AAPS J; 2023 Jan 18; 25(1):16. PubMed ID: 36653728
    [Abstract] [Full Text] [Related]

  • 30.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 31.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 32. Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
    Duong T, Kishnani PS, An Haack K, Foster MC, Gibson JB, Wilson C, Hahn SH, Hillman R, Kronn D, Leslie ND, Peña LDM, Sparks SE, Stockton DW, Tanpaiboon P, Day JW, Pompe ADVANCE Study Consortium.
    J Neuromuscul Dis; 2022 Jan 18; 9(6):713-730. PubMed ID: 36214004
    [Abstract] [Full Text] [Related]

  • 33. 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 18; 107(3):485-9. PubMed ID: 23000108
    [Abstract] [Full Text] [Related]

  • 34.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 35. Broad variation in phenotypes for common GAA genotypes in Pompe disease.
    Niño MY, In't Groen SLM, de Faria DOS, Hoogeveen-Westerveld M, van den Hout HJMP, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP.
    Hum Mutat; 2021 Nov 18; 42(11):1461-1472. PubMed ID: 34405923
    [Abstract] [Full Text] [Related]

  • 36. Transcriptomic characterization of clinical skeletal muscle biopsy from late-onset Pompe patients.
    Kinton S, Dufault MR, Zhang M, George K.
    Mol Genet Metab; 2023 Mar 18; 138(3):107526. PubMed ID: 36774918
    [Abstract] [Full Text] [Related]

  • 37. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
    Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS.
    Mol Genet Metab; 2017 Dec 18; 122(4):189-197. PubMed ID: 29122469
    [Abstract] [Full Text] [Related]

  • 38. Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
    Gupta N, Kazi ZB, Nampoothiri S, Jagdeesh S, Kabra M, Puri RD, Muranjan M, Kalaivani M, Rehder C, Bali D, Verma IC, Kishnani PS.
    J Pediatr; 2020 Jan 18; 216():44-50.e5. PubMed ID: 31606152
    [Abstract] [Full Text] [Related]

  • 39. An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
    Kulessa M, Weyer-Menkhoff I, Viergutz L, Kornblum C, Claeys KG, Schneider I, Plöckinger U, Young P, Boentert M, Vielhaber S, Mawrin C, Bergmann M, Weis J, Ziagaki A, Stenzel W, Deschauer M, Nolte D, Hahn A, Schoser B, Schänzer A.
    Neuropathol Appl Neurobiol; 2020 Jun 18; 46(4):359-374. PubMed ID: 31545528
    [Abstract] [Full Text] [Related]

  • 40. Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.
    Berger KI, Chien YH, Dubrovsky A, Kishnani PS, Llerena JC, Neilan E, Roberts M, Sheng B, Batista JL, Periquet M, Wilson KM, van der Ploeg AT.
    J Neurol; 2024 Aug 18; 271(8):5433-5446. PubMed ID: 38896264
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 19.