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Journal Abstract Search

378 related items for PubMed ID: 31086307

  • 1. 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]

  • 2. Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
    Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS, Pompe ADVANCE Study Consortium.
    Genet Med; 2018 Oct; 20(10):1284-1294. PubMed ID: 29565424
    [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. [GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ].
    Huang YL, Sheng HY, Jia XF, Su XY, Zhao XY, Xie T, Tang CF, Liu SC, Li XZ, Zhang W, Mei HF, Zeng CH, Liu L.
    Zhonghua Er Ke Za Zhi; 2021 Mar 02; 59(3):189-194. PubMed ID: 33657692
    [Abstract] [Full Text] [Related]

  • 5. 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 02; 66(11):1089-1099. PubMed ID: 33972680
    [Abstract] [Full Text] [Related]

  • 6. 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 02; 122(3):99-107. PubMed ID: 28951071
    [Abstract] [Full Text] [Related]

  • 7. Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy.
    Chen HA, Hsu RH, Fang CY, Desai AK, Lee NC, Hwu WL, Tsai FJ, Kishnani PS, Chien YH.
    Front Immunol; 2024 Nov 02; 15():1336599. PubMed ID: 38715621
    [Abstract] [Full Text] [Related]

  • 8. 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 02; 139(1):107565. PubMed ID: 37087815
    [Abstract] [Full Text] [Related]

  • 9. Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
    Gragnaniello V, Pijnappel PWWM, Burlina AP, In 't Groen SLM, Gueraldi D, Cazzorla C, Maines E, Polo G, Salviati L, Di Salvo G, Burlina AB.
    Mol Genet Metab Rep; 2022 Dec 02; 33():100929. PubMed ID: 36310651
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
    Martinez-Montoya V, Sánchez-Sánchez LM, Sandoval-Pacheco R, Castro DMA, Arellano-Valdez CA, Ávila-Rejón CA, Aguilar-Juárez PA, Espino-Pluma M, González-Santillanes CA, Martínez-Segovia RI, Olmos-Morfin D, la Torre OP, Solís-Sánchez I, Espinosa MVM, Villarroel-Cortés CE, Velarde-Félix JS, López-Valdez J, Olaiz-Urbina J, Ricárdez-Marcial E, Vergara-Sánchez I, Radillo-Díaz P, Kazakova E, De la Fuente-Cortez B, Del Carmen Marquez-Quiróz L, Torres-Octavo B, Diaz-Martinez R.
    Mol Genet Genomic Med; 2024 Jul 11; 12(7):e2480. PubMed ID: 38958145
    [Abstract] [Full Text] [Related]

  • 12. Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
    De Groot AS, Desai AK, Lelias S, Miah SMS, Terry FE, Khan S, Li C, Yi JS, Ardito M, Martin WD, Kishnani PS.
    Front Immunol; 2021 Jul 11; 12():636731. PubMed ID: 34220802
    [Abstract] [Full Text] [Related]

  • 13. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
    Byrne BJ, Colan SD, Kishnani PS, Foster MC, Sparks SE, Gibson JB, An Haack K, Stockton DW, Peña LDM, Hahn SH, Johnson J, Tanpaiboon PX, Leslie ND, Kronn D, Hillman RE, Wang RY, Pompe ADVANCE Study Consortium.
    Cardiol Young; 2022 Mar 11; 32(3):364-373. PubMed ID: 34420548
    [Abstract] [Full Text] [Related]

  • 14. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
    Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena JC, Berditchevsky CR, Sobreira C, Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo JS, Mattaliano RJ, Marie SK.
    J Neurol; 2009 Nov 11; 256(11):1881-90. PubMed ID: 19588081
    [Abstract] [Full Text] [Related]

  • 15. 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 11; 34():1-8. PubMed ID: 38087756
    [Abstract] [Full Text] [Related]

  • 16. 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 11; 126(2):106-116. PubMed ID: 30655185
    [Abstract] [Full Text] [Related]

  • 17. Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
    Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong HY, Chew HB, Sivabalakrishnan JB, Ngu LH.
    Orphanet J Rare Dis; 2023 Aug 04; 18(1):231. PubMed ID: 37542277
    [Abstract] [Full Text] [Related]

  • 18. Pompe disease: early diagnosis and early treatment make a difference.
    Chien YH, Hwu WL, Lee NC.
    Pediatr Neonatol; 2013 Aug 04; 54(4):219-27. PubMed ID: 23632029
    [Abstract] [Full Text] [Related]

  • 19. 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 04; 164A(1):54-61. PubMed ID: 24243590
    [Abstract] [Full Text] [Related]

  • 20. 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 04; 262(4):968-78. PubMed ID: 25673129
    [Abstract] [Full Text] [Related]

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