These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

256 related articles for article (PubMed ID: 33073027)

  • 1. Newborn Screening for Pompe Disease.
    Sawada T; Kido J; Nakamura K
    Int J Neonatal Screen; 2020 Jun; 6(2):31. PubMed ID: 33073027
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Current status of newborn screening for Pompe disease in Japan.
    Sawada T; Kido J; Sugawara K; Momosaki K; Yoshida S; Kojima-Ishii K; Inoue T; Matsumoto S; Endo F; Ohga S; Hirose S; Nakamura K
    Orphanet J Rare Dis; 2021 Dec; 16(1):516. PubMed ID: 34922579
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
    Tocan V; Mushimoto Y; Kojima-Ishii K; Matsuda A; Toda N; Toyomura D; Hirata Y; Sanefuji M; Sawada T; Sakai Y; Nakamura K; Ohga S
    Pediatr Int; 2022 Jan; 64(1):e15286. PubMed ID: 36074069
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The Clinical Management of Pompe Disease: A Pediatric Perspective.
    Marques JS
    Children (Basel); 2022 Sep; 9(9):. PubMed ID: 36138713
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.
    Chien YH; Goldstein JL; Hwu WL; Smith PB; Lee NC; Chiang SC; Tolun AA; Zhang H; Vaisnins AE; Millington DS; Kishnani PS; Young SP
    JIMD Rep; 2015; 19():67-73. PubMed ID: 25681082
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.
    Jalal K; Carter RL; Barczykowski A; Tomatsu S; Langan TJ
    Int J Neonatal Screen; 2022 Nov; 8(4):. PubMed ID: 36412587
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.
    Lukacs Z; Nieves Cobos P; Mengel E; Hartung R; Beck M; Deschauer M; Keil A; Santer R
    J Inherit Metab Dis; 2010 Feb; 33(1):43-50. PubMed ID: 20033296
    [TBL] [Abstract][Full Text] [Related]  

  • 13. At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening.
    Lukacs Z; Oliva P; Nieves Cobos P; Scott J; Mechtler TP; Kasper DC
    Int J Neonatal Screen; 2020 Dec; 6(4):. PubMed ID: 33371305
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
    Elliott S; Buroker N; Cournoyer JJ; Potier AM; Trometer JD; Elbin C; Schermer MJ; Kantola J; Boyce A; Turecek F; Gelb MH; Scott CR
    Mol Genet Metab; 2016 Aug; 118(4):304-9. PubMed ID: 27238910
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.
    Dajnoki A; Mühl A; Fekete G; Keutzer J; Orsini J; Dejesus V; Zhang XK; Bodamer OA
    Clin Chem; 2008 Oct; 54(10):1624-9. PubMed ID: 18703766
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.