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Journal Abstract Search

255 related items for PubMed ID: 30655185

  • 1. Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.
    Herbert M, Case LE, Rairikar M, Cope H, Bailey L, Austin SL, Kishnani PS.
    Mol Genet Metab; 2019 Feb; 126(2):106-116. PubMed ID: 30655185
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
    Montagnese F, Barca E, Musumeci O, Mondello S, Migliorato A, Ciranni A, Rodolico C, De Filippi P, Danesino C, Toscano A.
    J Neurol; 2015 Jan; 262(4):968-78. PubMed ID: 25673129
    [Abstract] [Full Text] [Related]

  • 5. 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, Pompe ADVANCE Study Consortium.
    Genet Med; 2019 Nov; 21(11):2543-2551. PubMed ID: 31086307
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  • 8. 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
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  • 9. Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
    Sniderman King L, Pan Y, Nallamilli BRR, Hegde M, Jagannathan L, Ramachander V, Lucas A, Markind J, Colzani R.
    Mol Genet Metab; 2023 May 09; 139(1):107565. PubMed ID: 37087815
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  • 10. 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 09; 122(4):189-197. PubMed ID: 29122469
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  • 11. Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
    van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TG, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJ, van der Ploeg AT.
    Orphanet J Rare Dis; 2016 May 18; 11(1):65. PubMed ID: 27189384
    [Abstract] [Full Text] [Related]

  • 12. Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.
    Lee NC, Chang KL, In 't Groen SLM, de Faria DOS, Huang HJ, Pijnappel WWMP, Hwu WL, Chien YH.
    J Pediatr; 2022 May 18; 244():139-147.e2. PubMed ID: 34995642
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  • 13. 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]

  • 14. A genetic modifier of symptom onset in Pompe disease.
    Bergsma AJ, In 't Groen SLM, van den Dorpel JJA, van den Hout HJMP, van der Beek NAME, Schoser B, Toscano A, Musumeci O, Bembi B, Dardis A, Morrone A, Tummolo A, Pasquini E, van der Ploeg AT, Pijnappel WWMP.
    EBioMedicine; 2019 May 31; 43():553-561. PubMed ID: 30922962
    [Abstract] [Full Text] [Related]

  • 15. 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 31; 140(3):107644. PubMed ID: 37515933
    [Abstract] [Full Text] [Related]

  • 16. Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start.
    Stockton DW, Kishnani P, van der Ploeg A, Llerena J, Boentert M, Roberts M, Byrne BJ, Araujo R, Maruti SS, Thibault N, Verhulst K, Berger KI.
    J Neurol; 2020 Oct 31; 267(10):3038-3053. PubMed ID: 32524257
    [Abstract] [Full Text] [Related]

  • 17. Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.
    Huggins E, Holland M, Case LE, Blount J, Landstrom AP, Jones HN, Kishnani PS.
    Mol Genet Metab; 2022 Mar 31; 135(3):179-185. PubMed ID: 35123877
    [Abstract] [Full Text] [Related]

  • 18. The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.
    Kuperus E, van der Meijden JC, In 't Groen SLM, Kroos MA, Hoogeveen-Westerveld M, Rizopoulos D, Martinez MYN, Kruijshaar ME, van Doorn PA, van der Beek NAME, van der Ploeg AT, Pijnappel WWMP.
    PLoS One; 2018 Mar 31; 13(12):e0208854. PubMed ID: 30532252
    [Abstract] [Full Text] [Related]

  • 19. Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
    Holzwarth J, Minopoli N, Pfrimmer C, Smitka M, Borrel S, Kirschner J, Muschol N, Hartmann H, Hennermann JB, Neubauer BA, Hobbiebrunken E, Husain RA, Hahn A.
    Neuropediatrics; 2022 Feb 31; 53(1):39-45. PubMed ID: 34852371
    [Abstract] [Full Text] [Related]

  • 20. 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; 31(5):431-441. PubMed ID: 33741225
    [Abstract] [Full Text] [Related]

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