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 *

178 related articles for article (PubMed ID: 35915971)

  • 1. 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]  

  • 2. Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.
    Davids L; Sun Y; Moore RH; Lisi E; Wittenauer A; Wilcox WR; Ali N
    Mol Genet Metab; 2021; 134(1-2):20-28. PubMed ID: 34602357
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Newborn screening for Pompe disease: impact on families.
    Pruniski B; Lisi E; Ali N
    J Inherit Metab Dis; 2018 Nov; 41(6):1189-1203. PubMed ID: 29594646
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Opinions of adults affected with later-onset lysosomal storage diseases regarding newborn screening: A qualitative study.
    Lisi EC; Ali N
    J Genet Couns; 2021 Dec; 30(6):1544-1558. PubMed ID: 33938615
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Qualitative Study: Mothers' Experiences of Their Child's Late-Onset Pompe Disease Diagnosis Following Newborn Screening.
    Crossen K; Berry L; Myers MF; Leslie N; Goueli C
    Int J Neonatal Screen; 2022 Jul; 8(3):. PubMed ID: 35892473
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.
    Pillai NR; Fabie NAV; Kaye TV; Rosendahl SD; Ahmed A; Hietala AD; Jorgenson AB; Lanpher BC; Whitley CB
    Mol Genet Metab; 2023; 140(1-2):107633. PubMed ID: 37414610
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.
    Huggins E; Holland M; Case LE; Blount J; Landstrom AP; Jones HN; Kishnani PS
    Mol Genet Metab; 2022 Mar; 135(3):179-185. PubMed ID: 35123877
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.
    Lee NC; Chang KL; In 't Groen SLM; de Faria DOS; Huang HJ; Pijnappel WWMP; Hwu WL; Chien YH
    J Pediatr; 2022 May; 244():139-147.e2. PubMed ID: 34995642
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
    Richardson JS; Kemper AR; Grosse SD; Lam WKK; Rose AM; Ahmad A; Gebremariam A; Prosser LA
    Genet Med; 2021 Apr; 23(4):758-766. PubMed ID: 33281187
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.