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 *

241 related articles for article (PubMed ID: 37680303)

  • 1. Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives.
    El Haddad L; Khan M; Soufny R; Mummy D; Driehuys B; Mansour W; Kishnani PS; ElMallah MK
    Ther Clin Risk Manag; 2023; 19():713-729. PubMed ID: 37680303
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Gene Therapy for Pompe Disease: The Time is now.
    Colella P; Mingozzi F
    Hum Gene Ther; 2019 Oct; 30(10):1245-1262. PubMed ID: 31298581
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
    Fukuhara Y; Fuji N; Yamazaki N; Hirakiyama A; Kamioka T; Seo JH; Mashima R; Kosuga M; Okuyama T
    Mol Genet Metab Rep; 2018 Mar; 14():3-9. PubMed ID: 29124014
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review.
    Schoser B; Raben N; Varfaj F; Walzer M; Toscano A
    Mol Genet Metab Rep; 2024 Jun; 39():101085. PubMed ID: 38698877
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Airway smooth muscle dysfunction in Pompe (
    Keeler AM; Liu D; Zieger M; Xiong L; Salemi J; Bellvé K; Byrne BJ; Fuller DD; ZhuGe R; ElMallah MK
    Am J Physiol Lung Cell Mol Physiol; 2017 Jun; 312(6):L873-L881. PubMed ID: 28336814
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Progress and challenges of gene therapy for Pompe disease.
    Ronzitti G; Collaud F; Laforet P; Mingozzi F
    Ann Transl Med; 2019 Jul; 7(13):287. PubMed ID: 31392199
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ].
    Huang YL; Sheng HY; Jia XF; Su XY; Zhao XY; Xie T; Tang CF; Liu SC; Li XZ; Zhang W; Mei HF; Zeng CH; Liu L
    Zhonghua Er Ke Za Zhi; 2021 Mar; 59(3):189-194. PubMed ID: 33657692
    [No Abstract]   [Full Text] [Related]  

  • 10. The Clinical Management of Pompe Disease: A Pediatric Perspective.
    Marques JS
    Children (Basel); 2022 Sep; 9(9):. PubMed ID: 36138713
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study).
    Yamauchi M; Nakayama H; Shiota S; Ohshima Y; Terada J; Nishijima T; Kosuga M; Kitamura T; Tachibana N; Oguri T; Shirahama R; Aoki Y; Ishigaki K; Sugie K; Yagi T; Muraki H; Fujita Y; Takatani T; Muro S
    Sleep Breath; 2021 Jun; 25(2):695-704. PubMed ID: 32808237
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy.
    Moravej H; Amirhakimi A; Showraki A; Amoozgar H; Hadipour Z; Nikfar G
    Iran J Med Sci; 2018 Mar; 43(2):218-222. PubMed ID: 29749992
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis.
    Sniderman King L; Pan Y; Nallamilli BRR; Hegde M; Jagannathan L; Ramachander V; Lucas A; Markind J; Colzani R
    Mol Genet Metab; 2023 May; 139(1):107565. PubMed ID: 37087815
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
    Ngiwsara L; Wattanasirichaigoon D; Tim-Aroon T; Rojnueangnit K; Noojaroen S; Khongkraparn A; Sawangareetrakul P; Ketudat-Cairns JR; Charoenwattanasatien R; Champattanachai V; Kuptanon C; Pangkanon S; Svasti J
    BMC Med Genet; 2019 Sep; 20(1):156. PubMed ID: 31510962
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Gene therapy with secreted acid alpha-glucosidase rescues Pompe disease in a novel mouse model with early-onset spinal cord and respiratory defects.
    Colella P; Sellier P; Gomez MJ; Biferi MG; Tanniou G; Guerchet N; Cohen-Tannoudji M; Moya-Nilges M; van Wittenberghe L; Daniele N; Gjata B; Krijnse-Locker J; Collaud F; Simon-Sola M; Charles S; Cagin U; Mingozzi F
    EBioMedicine; 2020 Nov; 61():103052. PubMed ID: 33039711
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel Mutation in the Feline
    Rakib TM; Islam MS; Tanaka S; Yabuki A; Pervin S; Maki S; Faruq AA; Tacharina MR; Yamato O
    Animals (Basel); 2023 Apr; 13(8):. PubMed ID: 37106898
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.
    Byrne BJ; Fuller DD; Smith BK; Clement N; Coleman K; Cleaver B; Vaught L; Falk DJ; McCall A; Corti M
    Ann Transl Med; 2019 Jul; 7(13):290. PubMed ID: 31392202
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].
    Zhang HB; Zhang WM; Qiu JJ; Meng Y; Qiu ZQ
    Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):415-9. PubMed ID: 22931935
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.
    Zhao HH; Ma Z; Ying ZX; Niu FN; Luo MT; Wang Z; Cheng X; Zhang QQ; Niu Q
    Ann Transl Med; 2021 Dec; 9(24):1803. PubMed ID: 35071497
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 13.