BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

372 related articles for article (PubMed ID: 27189384)

  • 1. 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; 11(1):65. PubMed ID: 27189384
    [TBL] [Abstract][Full Text] [Related]  

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

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

  • 4. Phenotypical variation within 22 families with Pompe disease.
    Wens SC; van Gelder CM; Kruijshaar ME; de Vries JM; van der Beek NA; Reuser AJ; van Doorn PA; van der Ploeg AT; Brusse E
    Orphanet J Rare Dis; 2013 Nov; 8():182. PubMed ID: 24245577
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
    Herzog A; Hartung R; Reuser AJ; Hermanns P; Runz H; Karabul N; Gökce S; Pohlenz J; Kampmann C; Lampe C; Beck M; Mengel E
    Orphanet J Rare Dis; 2012 Jun; 7():35. PubMed ID: 22676651
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. The genotype-phenotype correlation in Pompe disease.
    Kroos M; Hoogeveen-Westerveld M; van der Ploeg A; Reuser AJ
    Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):59-68. PubMed ID: 22253258
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.
    Musumeci O; Thieme A; Claeys KG; Wenninger S; Kley RA; Kuhn M; Lukacs Z; Deschauer M; Gaeta M; Toscano A; Gläser D; Schoser B
    Neuromuscul Disord; 2015 Sep; 25(9):719-24. PubMed ID: 26231297
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].
    Zhang HB; Zhang WM; Qiu JJ; Meng Y; Qiu ZQ
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):415-9. PubMed ID: 22931935
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 42(11):1461-1472. PubMed ID: 34405923
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study.
    Ünver O; Hacıfazlıoğlu NE; Karatoprak E; Güneş AS; Sağer G; Kutlubay B; Sözen G; Saltık S; Yılmaz K; Kara B; Türkdoğan D
    Neuromuscul Disord; 2016 Nov; 26(11):796-800. PubMed ID: 27666774
    [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. 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; 122(4):189-197. PubMed ID: 29122469
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 43():553-561. PubMed ID: 30922962
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
    Preisler N; Lukacs Z; Vinge L; Madsen KL; Husu E; Hansen RS; Duno M; Andersen H; Laub M; Vissing J
    Mol Genet Metab; 2013 Nov; 110(3):287-9. PubMed ID: 24011652
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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;
    Rev Neurol (Paris); 2013; 169(8-9):595-602. PubMed ID: 24008051
    [TBL] [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; 262(4):968-78. PubMed ID: 25673129
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.