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 *

475 related articles for article (PubMed ID: 27666774)

  • 41. Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease.
    Grzesiuk AK; Shinjo SM; da Silva R; Machado M; Galera MF; Marie SK
    Arq Neuropsiquiatr; 2010 Apr; 68(2):194-7. PubMed ID: 20464284
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
    Kroos MA; Pomponio RJ; Hagemans ML; Keulemans JL; Phipps M; DeRiso M; Palmer RE; Ausems MG; Van der Beek NA; Van Diggelen OP; Halley DJ; Van der Ploeg AT; Reuser AJ
    Neurology; 2007 Jan; 68(2):110-5. PubMed ID: 17210890
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
    van Capelle CI; van der Meijden JC; van den Hout JM; Jaeken J; Baethmann M; Voit T; Kroos MA; Derks TG; Rubio-Gozalbo ME; Willemsen MA; Lachmann RH; Mengel E; Michelakakis H; de Jongste JC; Reuser AJ; van der Ploeg AT
    Orphanet J Rare Dis; 2016 May; 11(1):65. PubMed ID: 27189384
    [TBL] [Abstract][Full Text] [Related]  

  • 44. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
    Bevilacqua JA; Guecaimburu Ehuletche MDR; Perna A; Dubrovsky A; Franca MC; Vargas S; Hegde M; Claeys KG; Straub V; Daba N; Faria R; Periquet M; Sparks S; Thibault N; Araujo R
    Orphanet J Rare Dis; 2020 Jan; 15(1):11. PubMed ID: 31931849
    [TBL] [Abstract][Full Text] [Related]  

  • 45. [Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].
    Liu Q; Zhao J; Wang ZX; Zhang W; Yuan Y
    Zhonghua Yi Xue Za Zhi; 2013 Jul; 93(25):1981-5. PubMed ID: 24169249
    [TBL] [Abstract][Full Text] [Related]  

  • 46. [Diagnosis recommendations for late-onset Pompe disease].
    Brito-Avô L; Alves JD; Costa JM; Valverde A; Santos L; Araújo F; Aguiar P; Marinho A; Oliveira A; Gomes D
    Acta Med Port; 2014; 27(4):525-9. PubMed ID: 25203965
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
    Lévesque S; Auray-Blais C; Gravel E; Boutin M; Dempsey-Nunez L; Jacques PE; Chenier S; Larue S; Rioux MF; Al-Hertani W; Nadeau A; Mathieu J; Maranda B; Désilets V; Waters PJ; Keutzer J; Austin S; Kishnani P
    Orphanet J Rare Dis; 2016 Jan; 11():8. PubMed ID: 26809617
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
    Bali DS; Tolun AA; Goldstein JL; Dai J; Kishnani PS
    Muscle Nerve; 2011 May; 43(5):665-70. PubMed ID: 21484825
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
    Montagnese F; Barca E; Musumeci O; Mondello S; Migliorato A; Ciranni A; Rodolico C; De Filippi P; Danesino C; Toscano A
    J Neurol; 2015; 262(4):968-78. PubMed ID: 25673129
    [TBL] [Abstract][Full Text] [Related]  

  • 50. The limb-girdle muscular dystrophies.
    Wicklund MP; Kissel JT
    Neurol Clin; 2014 Aug; 32(3):729-49, ix. PubMed ID: 25037088
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene.
    Alcántara-Ortigoza MA; González-del Angel A; Barrientos-Ríos R; Cupples C; Garrido-García LM; de León-Bojorge B; Alva-Chaire Adel C
    J Child Neurol; 2010 Aug; 25(8):1034-7. PubMed ID: 20350966
    [TBL] [Abstract][Full Text] [Related]  

  • 52. [Two new mutations in the gene that codes for acid alpha-glucosidase in an adolescent with late-onset Pompe disease].
    Guevara-Campos J; Romeo-Villarroel MA; González-De Guevara L; Escobar V
    Rev Neurol; 2013 Sep; 57(6):265-8. PubMed ID: 24008937
    [TBL] [Abstract][Full Text] [Related]  

  • 53. A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.
    Korpela MP; Paetau A; Löfberg MI; Timonen MH; Lamminen AE; Kiuru-Enari SM
    Muscle Nerve; 2009 Jul; 40(1):143-8. PubMed ID: 19472353
    [TBL] [Abstract][Full Text] [Related]  

  • 54. 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]  

  • 55. Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
    Nilsson MI; Kroos MA; Reuser AJ; Hatcher E; Akhtar M; McCready ME; Tarnopolsky MA
    Gene; 2014 Mar; 537(1):41-5. PubMed ID: 24384324
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
    Liu X; Wang Z; Jin W; Lv H; Zhang W; Que C; Huang Y; Yuan Y
    BMC Med Genet; 2014 Dec; 15():141. PubMed ID: 25526786
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients.
    Hanisch F; Müller CR; Grimm D; Xue L; Traufeller K; Merkenschlager A; Zierz S; Deschauer M
    Clin Neuropathol; 2007; 26(4):157-63. PubMed ID: 17702496
    [TBL] [Abstract][Full Text] [Related]  

  • 58. High-risk screening of late-onset Pompe disease: A different early portrait in China.
    Jiao K; Dong J; Luo S; Yu L; Ke Q; Wang Z; Luan X; Zhang X; Guo J; Chen Y; Li X; Tan S; Qian F; Jiang J; Yu X; Yue D; Liu C; Luo L; Li J; Qu Y; Chen L; Tu J; Sun C; Yan C; Song J; Xi J; Lin J; Lu J; Zhao C; Zhu W; Fang Q
    Front Neurol; 2022; 13():965207. PubMed ID: 36237614
    [TBL] [Abstract][Full Text] [Related]  

  • 59. First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.
    Torrealba-Acosta G; Rodríguez-Roblero MC; Bogantes-Ledezma S; Carazo-Céspedes K; Desnuelle C
    Neuromuscul Disord; 2017 Oct; 27(10):951-955. PubMed ID: 28694071
    [TBL] [Abstract][Full Text] [Related]  

  • 60. [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]  

    [Previous]   [Next]    [New Search]
    of 24.