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 *

303 related articles for article (PubMed ID: 29162675)

  • 1. Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.
    Kronn DF; Day-Salvatore D; Hwu WL; Jones SA; Nakamura K; Okuyama T; Swoboda KJ; Kishnani PS;
    Pediatrics; 2017 Jul; 140(Suppl 1):S24-S45. PubMed ID: 29162675
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.
    Kishnani PS; Beckemeyer AA; Mendelsohn NJ
    Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):1-7. PubMed ID: 22253049
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Treatment Dilemma in Children with Late-Onset Pompe Disease.
    Faraguna MC; Crescitelli V; Fornari A; Barzaghi S; Savasta S; Foiadelli T; Veraldi D; Paoletti M; Pichiecchio A; Gasperini S
    Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833288
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis.
    Prakash S; Penn JD; Jackson KE; Dean LW
    J Genet Couns; 2022 Dec; 31(6):1404-1420. PubMed ID: 35915971
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start.
    Stockton DW; Kishnani P; van der Ploeg A; Llerena J; Boentert M; Roberts M; Byrne BJ; Araujo R; Maruti SS; Thibault N; Verhulst K; Berger KI
    J Neurol; 2020 Oct; 267(10):3038-3053. PubMed ID: 32524257
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale.
    Hundsberger T; Schoser B; Leupold D; Rösler KM; Putora PM
    J Neurol; 2019 Aug; 266(8):2010-2017. PubMed ID: 31104135
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Newborn Screening for Pompe Disease.
    Bodamer OA; Scott CR; Giugliani R;
    Pediatrics; 2017 Jul; 140(Suppl 1):S4-S13. PubMed ID: 29162673
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Pompe disease in infants: improving the prognosis by newborn screening and early treatment.
    Chien YH; Lee NC; Thurberg BL; Chiang SC; Zhang XK; Keutzer J; Huang AC; Wu MH; Huang PH; Tsai FJ; Chen YT; Hwu WL
    Pediatrics; 2009 Dec; 124(6):e1116-25. PubMed ID: 19948615
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.
    Burton BK; Kronn DF; Hwu WL; Kishnani PS;
    Pediatrics; 2017 Jul; 140(Suppl 1):S14-S23. PubMed ID: 29162674
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening.
    Atherton AM; Day-Salvatore D;
    Pediatrics; 2017 Jul; 140(Suppl 1):S46-S50. PubMed ID: 29162676
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease.
    Case LE; Bjartmar C; Morgan C; Casey R; Charrow J; Clancy JP; Dasouki M; DeArmey S; Nedd K; Nevins M; Peters H; Phillips D; Spigelman Z; Tifft C; Kishnani PS
    Neuromuscul Disord; 2015 Apr; 25(4):321-32. PubMed ID: 25617983
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review.
    Toscano A; Schoser B
    J Neurol; 2013 Apr; 260(4):951-9. PubMed ID: 22926164
    [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. Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations.
    Case LE; Beckemeyer AA; Kishnani PS
    Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):69-79. PubMed ID: 22252989
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.
    Chien YH; Lee NC; Huang HJ; Thurberg BL; Tsai FJ; Hwu WL
    J Pediatr; 2011 Jun; 158(6):1023-1027.e1. PubMed ID: 21232767
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.