BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

461 related articles for article (PubMed ID: 30093193)

  • 1. A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy.
    Hossain MA; Miyajima T; Akiyama K; Eto Y
    J Stroke Cerebrovasc Dis; 2018 Nov; 27(11):3046-3052. PubMed ID: 30093193
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pattern and prognostic value of cardiac involvement in patients with late-onset pompe disease: a comprehensive cardiovascular magnetic resonance approach.
    Boentert M; Florian A; Dräger B; Young P; Yilmaz A
    J Cardiovasc Magn Reson; 2016 Dec; 18(1):91. PubMed ID: 27931223
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Infantile Pompe disease with intrauterine onset: a case report and literature review.
    Xi H; Li X; Ma L; Yin X; Yang P; Zhang L
    Ital J Pediatr; 2022 Nov; 48(1):187. PubMed ID: 36411466
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The emerging phenotype of late-onset Pompe disease: A systematic literature review.
    Chan J; Desai AK; Kazi ZB; Corey K; Austin S; Hobson-Webb LD; Case LE; Jones HN; Kishnani PS
    Mol Genet Metab; 2017 Mar; 120(3):163-172. PubMed ID: 28185884
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Variability in the clinical presentation of Pompe disease in infancy: two case reports and response to treatment with human recombinant enzyme].
    Moreno-Medinilla E; Berzosa-López R; Mora-Ramírez MD; Blasco-Alonso J; Martínez-Antón J
    Rev Neurol; 2014 Dec; 59(11):503-7. PubMed ID: 25418145
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Clinical features of Pompe disease.
    Manganelli F; Ruggiero L
    Acta Myol; 2013 Oct; 32(2):82-4. PubMed ID: 24399863
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Restrictive Arteriopathy in Late-Onset Pompe Disease: Case Report and Review of the Literature.
    Malhotra K; Carrington DC; Liebeskind DS
    J Stroke Cerebrovasc Dis; 2017 Aug; 26(8):e172-e175. PubMed ID: 28647415
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.
    Korpela MP; Paetau A; Löfberg MI; Timonen MH; Lamminen AE; Kiuru-Enari SM
    Muscle Nerve; 2009 Jul; 40(1):143-8. PubMed ID: 19472353
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
    Nilsson MI; Kroos MA; Reuser AJ; Hatcher E; Akhtar M; McCready ME; Tarnopolsky MA
    Gene; 2014 Mar; 537(1):41-5. PubMed ID: 24384324
    [TBL] [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; 43():553-561. PubMed ID: 30922962
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.
    Pascual SI
    Adv Exp Med Biol; 2009; 652():39-46. PubMed ID: 20225018
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results.
    Hamdan MA; Almalik MH; Mirghani HM
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S431-6. PubMed ID: 19067231
    [TBL] [Abstract][Full Text] [Related]  

  • 18. First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.
    Torrealba-Acosta G; Rodríguez-Roblero MC; Bogantes-Ledezma S; Carazo-Céspedes K; Desnuelle C
    Neuromuscul Disord; 2017 Oct; 27(10):951-955. PubMed ID: 28694071
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Late onset form of Pompe disease.
    Mattosova S; Hlavata A; Spalek P; Kotysova L; Macekova D; Chandoga J
    Bratisl Lek Listy; 2015; 116(8):502-5. PubMed ID: 26350092
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 24.