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

147 related items for PubMed ID: 38087756

  • 1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
    Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J.
    Neuromuscul Disord; 2024 Jan; 34():1-8. PubMed ID: 38087756
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3. 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
    [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 Nov; 262(4):968-78. PubMed ID: 25673129
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry.
    Lessard LER, Tard C, Salort-Campana E, Sacconi S, Béhin A, Bassez G, Orlikowski D, Merle P, Nollet S, Gallay L, Bérard F, Robinson P, Bouhour F, Laforêt P.
    Mol Genet Metab; 2023 Jul; 139(3):107611. PubMed ID: 37285781
    [Abstract] [Full Text] [Related]

  • 8. The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
    Laforêt P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel JY, Orlikowski D, Bouhour F, Lacour A, Salort-Campana E, Penisson-Besnier I, Sacconi S, Zagnoli F, Chapon F, Eymard B, Desnuelle C, Pouget J, French Pompe Registry Study Group.
    Rev Neurol (Paris); 2013 Jul; 169(8-9):595-602. PubMed ID: 24008051
    [Abstract] [Full Text] [Related]

  • 9. Characteristics of Pompe disease in China: a report from the Pompe registry.
    Zhao Y, Wang Z, Lu J, Gu X, Huang Y, Qiu Z, Wei Y, Yan C.
    Orphanet J Rare Dis; 2019 Apr 03; 14(1):78. PubMed ID: 30943998
    [Abstract] [Full Text] [Related]

  • 10. A Comprehensive Update on Late-Onset Pompe Disease.
    Labella B, Cotti Piccinelli S, Risi B, Caria F, Damioli S, Bertella E, Poli L, Padovani A, Filosto M.
    Biomolecules; 2023 Aug 22; 13(9):. PubMed ID: 37759679
    [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 22; 122(3):99-107. PubMed ID: 28951071
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 160C(1):1-7. PubMed ID: 22253049
    [Abstract] [Full Text] [Related]

  • 13. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment.
    Yang CF, Liu HC, Hsu TR, Tsai FC, Chiang SF, Chiang CC, Ho HC, Lai CJ, Yang TF, Chuang SY, Lin CY, Niu DM.
    Am J Med Genet A; 2014 Jan 15; 164A(1):54-61. PubMed ID: 24243590
    [Abstract] [Full Text] [Related]

  • 14. Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease.
    Alonso-Pérez J, Segovia S, Domínguez-González C, Olivé M, Mendoza Grimón MD, Fernández-Torrón R, López de Munain A, Muñoz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, Díaz-Manera J.
    Med Clin (Barc); 2020 Feb 14; 154(3):80-85. PubMed ID: 31253477
    [Abstract] [Full Text] [Related]

  • 15. 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 14; 126(2):106-116. PubMed ID: 30655185
    [Abstract] [Full Text] [Related]

  • 16. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
    Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J.
    BMC Med Genet; 2019 Sep 11; 20(1):156. PubMed ID: 31510962
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 19. Phenotypic implications of pathogenic variant types in Pompe disease.
    Viamonte MA, Filipp SL, Zaidi Z, Gurka MJ, Byrne BJ, Kang PB.
    J Hum Genet; 2021 Nov 11; 66(11):1089-1099. PubMed ID: 33972680
    [Abstract] [Full Text] [Related]

  • 20. Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.
    Pillai NR, Fabie NAV, Kaye TV, Rosendahl SD, Ahmed A, Hietala AD, Jorgenson AB, Lanpher BC, Whitley CB.
    Mol Genet Metab; 2023 Nov 11; 140(1-2):107633. PubMed ID: 37414610
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.