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 *

366 related articles for article (PubMed ID: 27189384)

  • 21. [A retrospective study of six patients with late-onset Pompe disease].
    Saux A; Laforet P; Pagès AM; Figarella-Branger D; Pellissier JF; Pagès M; Labauge P
    Rev Neurol (Paris); 2008 Apr; 164(4):336-42. PubMed ID: 18439925
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.
    van der Beek NA; Soliman OI; van Capelle CI; Geleijnse ML; Vletter WB; Kroos MA; Reuser AJ; Frohn-Mulder IM; van Doorn PA; van der Ploeg AT
    J Neurol Sci; 2008 Dec; 275(1-2):46-50. PubMed ID: 18757064
    [TBL] [Abstract][Full Text] [Related]  

  • 23. New mutations and genotype-phenotype correlation in late-onset Pompe patients.
    Bekircan-Kurt CE; Güneş HN; Yildiz FG; Saka E; Tan E; Erdem-Özdamar S
    Acta Neurol Belg; 2017 Mar; 117(1):269-275. PubMed ID: 28032299
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.
    Su X; Sheng H; Huang Y; Li X; Zhang W; Zhao X; Li C; Liu L
    Eur J Med Genet; 2020 Dec; 63(12):103997. PubMed ID: 32711049
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
    Semplicini C; Letard P; De Antonio M; Taouagh N; Perniconi B; Bouhour F; Echaniz-Laguna A; Orlikowski D; Sacconi S; Salort-Campana E; Solé G; Zagnoli F; Hamroun D; Froissart R; Caillaud C; Laforêt P;
    J Inherit Metab Dis; 2018 Nov; 41(6):937-946. PubMed ID: 30155607
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.
    Kuperus E; van der Meijden JC; In 't Groen SLM; Kroos MA; Hoogeveen-Westerveld M; Rizopoulos D; Martinez MYN; Kruijshaar ME; van Doorn PA; van der Beek NAME; van der Ploeg AT; Pijnappel WWMP
    PLoS One; 2018; 13(12):e0208854. PubMed ID: 30532252
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
    Lorenzoni PJ; Kay CSK; Higashi NS; D'Almeida V; Werneck LC; Scola RH
    Arq Neuropsiquiatr; 2018 Apr; 76(4):247-251. PubMed ID: 29742245
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.
    Palmer RE; Amartino HM; Niizawa G; Blanco M; Pomponio RJ; Chamoles NA
    Neuromuscul Disord; 2007 Jan; 17(1):16-22. PubMed ID: 17056254
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
    van der Meijden JC; Kruijshaar ME; Harlaar L; Rizopoulos D; van der Beek NAME; van der Ploeg AT
    J Inherit Metab Dis; 2018 Nov; 41(6):1205-1214. PubMed ID: 29556838
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Phenotypic implications of pathogenic variant types in Pompe disease.
    Viamonte MA; Filipp SL; Zaidi Z; Gurka MJ; Byrne BJ; Kang PB
    J Hum Genet; 2021 Nov; 66(11):1089-1099. PubMed ID: 33972680
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
    Kroos M; Pomponio RJ; van Vliet L; Palmer RE; Phipps M; Van der Helm R; Halley D; Reuser A;
    Hum Mutat; 2008 Jun; 29(6):E13-26. PubMed ID: 18425781
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Late-onset pompe disease in Iran: A clinical and genetic report.
    Nazari F; Sinaei F; Nilipour Y; Fatehi F; Streubel B; Ashrafi MR; Aryani O; Nafissi S
    Muscle Nerve; 2017 Jun; 55(6):835-840. PubMed ID: 27649523
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.
    Schoser BG; Müller-Höcker J; Horvath R; Gempel K; Pongratz D; Lochmüller H; Müller-Felber W
    Neuropathol Appl Neurobiol; 2007 Oct; 33(5):544-59. PubMed ID: 17573812
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
    Martinez-Montoya V; Sánchez-Sánchez LM; Sandoval-Pacheco R; Castro DMA; Arellano-Valdez CA; Ávila-Rejón CA; Aguilar-Juárez PA; Espino-Pluma M; González-Santillanes CA; Martínez-Segovia RI; Olmos-Morfin D; la Torre OP; Solís-Sánchez I; Espinosa MVM; Villarroel-Cortés CE; Velarde-Félix JS; López-Valdez J; Olaiz-Urbina J; Ricárdez-Marcial E; Vergara-Sánchez I; Radillo-Díaz P; Kazakova E; De la Fuente-Cortez B; Del Carmen Marquez-Quiróz L; Torres-Octavo B; Diaz-Martinez R
    Mol Genet Genomic Med; 2024 Jul; 12(7):e2480. PubMed ID: 38958145
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening.
    Rigter T; Weinreich SS; van El CG; de Vries JM; van Gelder CM; Güngör D; Reuser AJ; Hagemans ML; Cornel MC; van der Ploeg AT
    Mol Genet Metab; 2012 Nov; 107(3):448-55. PubMed ID: 23040796
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.
    Liu HX; Pu CQ; Shi Q; Zhang YT; Ban R
    Chin Med J (Engl); 2018 Feb; 131(4):448-453. PubMed ID: 29451150
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.
    Fu L; Qiu W; Yu Y; Guo Y; Zhao P; Zhang X; Liu C; Li F; Huang H; Huang M; Chen S
    Gene; 2014 Feb; 535(1):53-9. PubMed ID: 24269976
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
    Savarese M; Torella A; Musumeci O; Angelini C; Astrea G; Bello L; Bruno C; Comi GP; Di Fruscio G; Piluso G; Di Iorio G; Ergoli M; Esposito G; Fanin M; Farina O; Fiorillo C; Garofalo A; Giugliano T; Magri F; Minetti C; Moggio M; Passamano L; Pegoraro E; Picillo E; Sampaolo S; Santorelli FM; Semplicini C; Udd B; Toscano A; Politano L; Nigro V
    Neuromuscul Disord; 2018 Jul; 28(7):586-591. PubMed ID: 29880332
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 19.