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 *

155 related articles for article (PubMed ID: 36873091)

  • 1. Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).
    Altassan R; Albert-Brotons DC; Alowain M; Al-Halees Z; Jaeken J; Morava E
    JIMD Rep; 2023 Mar; 64(2):123-128. PubMed ID: 36873091
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.
    Radenkovic S; Johnsen C; Schulze A; Lail G; Guilder L; Schwartz K; Schultz M; Mercimek-Andrews S; Boyer S; Morava E
    Ther Adv Rare Dis; 2023; 4():26330040221150269. PubMed ID: 37181075
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
    Conte F; Morava E; Bakar NA; Wortmann SB; Poerink AJ; Grunewald S; Crushell E; Al-Gazali L; de Vries MC; Mørkrid L; Hertecant J; Brocke Holmefjord KS; Kronn D; Feigenbaum A; Fingerhut R; Wong SY; van Scherpenzeel M; Voermans NC; Lefeber DJ
    Mol Genet Metab; 2020; 131(1-2):135-146. PubMed ID: 33342467
    [TBL] [Abstract][Full Text] [Related]  

  • 4. AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).
    Balakrishnan B; Altassan R; Budhraja R; Liou W; Lupo A; Bryant S; Mankouski A; Radenkovic S; Preston GJ; Pandey A; Boudina S; Kozicz T; Morava E; Lai K
    Transl Res; 2023 Jul; 257():1-14. PubMed ID: 36709920
    [TBL] [Abstract][Full Text] [Related]  

  • 5. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
    Altassan R; Radenkovic S; Edmondson AC; Barone R; Brasil S; Cechova A; Coman D; Donoghue S; Falkenstein K; Ferreira V; Ferreira C; Fiumara A; Francisco R; Freeze H; Grunewald S; Honzik T; Jaeken J; Krasnewich D; Lam C; Lee J; Lefeber D; Marques-da-Silva D; Pascoal C; Quelhas D; Raymond KM; Rymen D; Seroczynska M; Serrano M; Sykut-Cegielska J; Thiel C; Tort F; Vals MA; Videira P; Voermans N; Witters P; Morava E
    J Inherit Metab Dis; 2021 Jan; 44(1):148-163. PubMed ID: 32681750
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A new D-galactose treatment monitoring index for PGM1-CDG.
    Perales-Clemente E; Liedtke K; Studinski A; Radenkovic S; Gavrilov D; Oglesbee D; Matern D; Rinaldo P; Tortorelli S; Morava E; Raymond K
    J Inherit Metab Dis; 2021 Sep; 44(5):1263-1271. PubMed ID: 34043239
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
    Radenkovic S; Bird MJ; Emmerzaal TL; Wong SY; Felgueira C; Stiers KM; Sabbagh L; Himmelreich N; Poschet G; Windmolders P; Verheijen J; Witters P; Altassan R; Honzik T; Eminoglu TF; James PM; Edmondson AC; Hertecant J; Kozicz T; Thiel C; Vermeersch P; Cassiman D; Beamer L; Morava E; Ghesquière B
    Am J Hum Genet; 2019 May; 104(5):835-846. PubMed ID: 30982613
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG.
    Morava E
    Mol Genet Metab; 2014 Aug; 112(4):275-9. PubMed ID: 24997537
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Coagulation abnormalities and vascular complications are common in PGM1-CDG.
    Radenkovic S; Bleukx S; Engelhardt N; Eklund E; Mercimek-Andrews S; Edmondson AC; Morava E
    Mol Genet Metab; 2024 Jul; 142(4):108530. PubMed ID: 38968673
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Oral D-galactose supplementation in PGM1-CDG.
    Wong SY; Gadomski T; van Scherpenzeel M; Honzik T; Hansikova H; Holmefjord KSB; Mork M; Bowling F; Sykut-Cegielska J; Koch D; Hertecant J; Preston G; Jaeken J; Peeters N; Perez S; Nguyen DD; Crivelly K; Emmerzaal T; Gibson KM; Raymond K; Abu Bakar N; Foulquier F; Poschet G; Ackermann AM; He M; Lefeber DJ; Thiel C; Kozicz T; Morava E
    Genet Med; 2017 Nov; 19(11):1226-1235. PubMed ID: 28617415
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood.
    Fernlund E; Andersson O; Ellegård R; Årstrand HK; Green H; Olsson H; Gunnarsson C
    Forensic Sci Int Genet; 2019 Nov; 43():102111. PubMed ID: 31563034
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.
    Zemet R; Hope KD; Edmondson AC; Shah R; Patino M; Yesso AM; Berger JH; Sarafoglou K; Larson A; Lam C; Morava E; Scaglia F
    Mol Genet Metab; 2024 Jun; 142(4):108513. PubMed ID: 38917675
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.
    Ondruskova N; Honzik T; Vondrackova A; Tesarova M; Zeman J; Hansikova H
    Neuro Endocrinol Lett; 2014; 35(2):137-41. PubMed ID: 24878975
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Limitations of galactose therapy in phosphoglucomutase 1 deficiency.
    Nolting K; Park JH; Tegtmeyer LC; Zühlsdorf A; Grüneberg M; Rust S; Reunert J; Du Chesne I; Debus V; Schulze-Bahr E; Baxter RC; Wada Y; Thiel C; van Schaftingen E; Fingerhut R; Marquardt T
    Mol Genet Metab Rep; 2017 Dec; 13():33-40. PubMed ID: 28794993
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Central nervous involvement is common in PGM1-CDG.
    Radenkovic S; Witters P; Morava E
    Mol Genet Metab; 2018 Nov; 125(3):200-204. PubMed ID: 30262252
    [TBL] [Abstract][Full Text] [Related]  

  • 16. PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure.
    Zeevaert R; Scalais E; Muino Mosquera L; De Meirleir L; De Beaufort C; Witsch M; Jaeken J; De Schepper J
    Acta Clin Belg; 2016 Dec; 71(6):435-437. PubMed ID: 27351072
    [TBL] [Abstract][Full Text] [Related]  

  • 17. News on Clinical Details and Treatment in PGM1-CDG.
    Schrapers E; Tegtmeyer LC; Simic-Schleicher G; Debus V; Reunert J; Balbach S; Klingel K; Du Chesne I; Seelhöfer A; Fobker M; Marquardt T; Rust S
    JIMD Rep; 2016; 26():77-84. PubMed ID: 26303607
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
    Wong SY; Beamer LJ; Gadomski T; Honzik T; Mohamed M; Wortmann SB; Brocke Holmefjord KS; Mork M; Bowling F; Sykut-Cegielska J; Koch D; Ackermann A; Stanley CA; Rymen D; Zeharia A; Al-Sayed M; Marquardt T; Jaeken J; Lefeber D; Conrad DF; Kozicz T; Morava E
    J Pediatr; 2016 Aug; 175():130-136.e8. PubMed ID: 27206562
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy.
    Donoghue SE; White SM; Tan TY; Kowalski R; Morava E; Yaplito-Lee J
    JIMD Rep; 2021 Jan; 57(1):29-37. PubMed ID: 33473337
    [TBL] [Abstract][Full Text] [Related]  

  • 20. From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).
    Kapusta L; Zucker N; Frenckel G; Medalion B; Ben Gal T; Birk E; Mandel H; Nasser N; Morgenstern S; Zuckermann A; Lefeber DJ; de Brouwer A; Wevers RA; Lorber A; Morava E
    Heart Fail Rev; 2013 Mar; 18(2):187-96. PubMed ID: 22327749
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.