BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

405 related articles for article (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;
    Genet Med; 2019 Nov; 21(11):2543-2551. PubMed ID: 31086307
    [TBL] [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;
    Genet Med; 2018 Oct; 20(10):1284-1294. PubMed ID: 29565424
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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; 59(3):189-194. PubMed ID: 33657692
    [No Abstract]   [Full Text] [Related]  

  • 4. 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
    [TBL] [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; 66(11):1089-1099. PubMed ID: 33972680
    [TBL] [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; 122(3):99-107. PubMed ID: 28951071
    [TBL] [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; 15():1336599. PubMed ID: 38715621
    [TBL] [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; 139(1):107565. PubMed ID: 37087815
    [TBL] [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; 33():100929. PubMed ID: 36310651
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 12(7):e2480. PubMed ID: 38958145
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 12():636731. PubMed ID: 34220802
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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;
    Cardiol Young; 2022 Mar; 32(3):364-373. PubMed ID: 34420548
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 18(1):231. PubMed ID: 37542277
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 256(11):1881-90. PubMed ID: 19588081
    [TBL] [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; 126(2):106-116. PubMed ID: 30655185
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 20(1):156. PubMed ID: 31510962
    [TBL] [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; 54(4):219-27. PubMed ID: 23632029
    [TBL] [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; 164A(1):54-61. PubMed ID: 24243590
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
    Lin N; Huang J; Violante S; Orsini JJ; Caggana M; Hughes EE; Stevens C; DiAntonio L; Chieh Liao H; Hong X; Ghomashchi F; Babu Kumar A; Zhou H; Kornreich R; Wasserstein M; Gelb MH; Yu C
    Clin Chem; 2017 Apr; 63(4):842-851. PubMed ID: 28196920
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.