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 *

198 related articles for article (PubMed ID: 29749992)

  • 21. Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.
    Austin SL; Chiou A; Sun B; Case LE; Govendrageloo K; Hansen P; Kishnani PS
    Mol Genet Metab; 2017; 120(1-2):96-100. PubMed ID: 27692944
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.
    Kim MS; Song A; Im M; Huh J; Kang IS; Song J; Yang A; Kim J; Kwon EK; Choi EJ; Han SJ; Park HD; Cho SY; Jin DK
    Korean J Pediatr; 2019 Jun; 62(6):224-234. PubMed ID: 30360039
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [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]  

  • 24. A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation.
    Curelaru S; Desai AK; Fink D; Zehavi Y; Kishnani PS; Spiegel R
    Mol Genet Metab Rep; 2022 Sep; 32():100893. PubMed ID: 35813979
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].
    Qiu JJ; Wei M; Zhang WM; Shi HP
    Zhonghua Er Ke Za Zhi; 2007 Oct; 45(10):760-4. PubMed ID: 18211760
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A Liver Model of Infantile-Onset Pompe Disease Using Patient-Specific Induced Pluripotent Stem Cells.
    Yoshida T; Jonouchi T; Osafune K; Takita J; Sakurai H
    Front Cell Dev Biol; 2019; 7():316. PubMed ID: 31850350
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.
    Al-Hassnan Z; Hashmi NA; Makhseed N; Omran TB; Al Jasmi F; Teneiji AA
    Orphanet J Rare Dis; 2022 Oct; 17(1):388. PubMed ID: 36303251
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy.
    Hossain MA; Miyajima T; Akiyama K; Eto Y
    J Stroke Cerebrovasc Dis; 2018 Nov; 27(11):3046-3052. PubMed ID: 30093193
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells.
    Yoshida T; Awaya T; Jonouchi T; Kimura R; Kimura S; Era T; Heike T; Sakurai H
    Sci Rep; 2017 Oct; 7(1):13473. PubMed ID: 29044175
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.
    Lee DH; Qiu WJ; Lee J; Chien YH; Hwu WL
    JIMD Rep; 2014; 17():71-5. PubMed ID: 25213570
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme.
    Pascual SI
    Adv Exp Med Biol; 2009; 652():39-46. PubMed ID: 20225018
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.
    Wang Z; Okamoto P; Keutzer J
    Mol Genet Metab; 2014 Feb; 111(2):92-100. PubMed ID: 24044919
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Variability in the clinical presentation of Pompe disease in infancy: two case reports and response to treatment with human recombinant enzyme].
    Moreno-Medinilla E; Berzosa-López R; Mora-Ramírez MD; Blasco-Alonso J; Martínez-Antón J
    Rev Neurol; 2014 Dec; 59(11):503-7. PubMed ID: 25418145
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.
    Mori M; Bailey LA; Estrada J; Rehder CW; Li JS; Rogers JG; Bali DS; Buckley AF; Kishnani PS
    JIMD Rep; 2017; 31():79-83. PubMed ID: 27142047
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report.
    Bor M; Ilhan O; Gumus E; Ozkan S; Karaca M
    J Pediatr Intensive Care; 2022 Mar; 11(1):62-66. PubMed ID: 35178279
    [TBL] [Abstract][Full Text] [Related]  

  • 38. The infantile-onset form of Pompe disease: an autopsy diagnosis.
    Dos Santos OC; Schultz R
    Autops Case Rep; 2015; 5(4):45-51. PubMed ID: 26894045
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
    Parini R; De Lorenzo P; Dardis A; Burlina A; Cassio A; Cavarzere P; Concolino D; Della Casa R; Deodato F; Donati MA; Fiumara A; Gasperini S; Menni F; Pagliardini V; Sacchini M; Spada M; Taurisano R; Valsecchi MG; Di Rocco M; Bembi B
    Orphanet J Rare Dis; 2018 Feb; 13(1):32. PubMed ID: 29422078
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.