BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

768 related articles for article (PubMed ID: 20080426)

  • 1. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
    Labrousse P; Chien YH; Pomponio RJ; Keutzer J; Lee NC; Akmaev VR; Scholl T; Hwu WL
    Mol Genet Metab; 2010 Apr; 99(4):379-83. PubMed ID: 20080426
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
    Momosaki K; Kido J; Yoshida S; Sugawara K; Miyamoto T; Inoue T; Okumiya T; Matsumoto S; Endo F; Hirose S; Nakamura K
    J Hum Genet; 2019 Aug; 64(8):741-755. PubMed ID: 31076647
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.
    Shigeto S; Katafuchi T; Okada Y; Nakamura K; Endo F; Okuyama T; Takeuchi H; Kroos MA; Verheijen FW; Reuser AJ; Okumiya T
    Mol Genet Metab; 2011 May; 103(1):12-7. PubMed ID: 21320792
    [TBL] [Abstract][Full Text] [Related]  

  • 4. High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.
    Kumamoto S; Katafuchi T; Nakamura K; Endo F; Oda E; Okuyama T; Kroos MA; Reuser AJ; Okumiya T
    Mol Genet Metab; 2009 Jul; 97(3):190-5. PubMed ID: 19362502
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Newborn screening for Pompe disease in Japan.
    Oda E; Tanaka T; Migita O; Kosuga M; Fukushi M; Okumiya T; Osawa M; Okuyama T
    Mol Genet Metab; 2011 Dec; 104(4):560-5. PubMed ID: 21963784
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
    Chien YH; Chiang SC; Zhang XK; Keutzer J; Lee NC; Huang AC; Chen CA; Wu MH; Huang PH; Tsai FJ; Chen YT; Hwu WL
    Pediatrics; 2008 Jul; 122(1):e39-45. PubMed ID: 18519449
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Diagnosing lysosomal storage disorders: Pompe disease.
    Bodamer OA; Dajnoki A
    Curr Protoc Hum Genet; 2012 Oct; Chapter 17():Unit17.11. PubMed ID: 23074069
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.
    Er TK; Chen CC; Chien YH; Liang WC; Kan TM; Jong YJ
    Clin Chim Acta; 2014 Feb; 429():18-25. PubMed ID: 24444888
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.
    Chiang SC; Hwu WL; Lee NC; Hsu LW; Chien YH
    Mol Genet Metab; 2012 Jul; 106(3):281-6. PubMed ID: 22578805
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
    Kroos MA; Mullaart RA; Van Vliet L; Pomponio RJ; Amartino H; Kolodny EH; Pastores GM; Wevers RA; Van der Ploeg AT; Halley DJ; Reuser AJ
    Eur J Hum Genet; 2008 Aug; 16(8):875-9. PubMed ID: 18301443
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
    McCready ME; Carson NL; Chakraborty P; Clarke JT; Callahan JW; Skomorowski MA; Chan AK; Bamforth F; Casey R; Rupar CA; Geraghty MT
    Mol Genet Metab; 2007 Dec; 92(4):325-35. PubMed ID: 17723315
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Newborn screening for Pompe disease: an update, 2011.
    Burton BK
    Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):8-12. PubMed ID: 22253219
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.
    Liao HC; Chan MJ; Yang CF; Chiang CC; Niu DM; Huang CK; Gelb MH
    Clin Chem; 2017 Jul; 63(7):1271-1277. PubMed ID: 28450385
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 39.