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.
177 related articles for article (PubMed ID: 36138713)
21. Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD). Ripolone M; Violano R; Ronchi D; Mondello S; Nascimbeni A; Colombo I; Fagiolari G; Bordoni A; Fortunato F; Lucchini V; Saredi S; Filosto M; Musumeci O; Tonin P; Mongini T; Previtali S; Morandi L; Angelini C; Mora M; Sandri M; Sciacco M; Toscano A; Comi GP; Moggio M Neuropathol Appl Neurobiol; 2018 Aug; 44(5):449-462. PubMed ID: 28574618 [TBL] [Abstract][Full Text] [Related]
22. The impact of antibodies in late-onset Pompe disease: a case series and literature review. Patel TT; Banugaria SG; Case LE; Wenninger S; Schoser B; Kishnani PS Mol Genet Metab; 2012 Jul; 106(3):301-9. PubMed ID: 22613277 [TBL] [Abstract][Full Text] [Related]
23. Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state. Matsuoka T; Miwa Y; Tajika M; Sawada M; Fujimaki K; Soga T; Tomita H; Uemura S; Nishino I; Fukuda T; Sugie H; Kosuga M; Okuyama T; Umeda Y Mol Genet Metab Rep; 2016 Dec; 9():98-105. PubMed ID: 27896132 [TBL] [Abstract][Full Text] [Related]
24. Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease. Chien YH; Hwu WL; Lee NC; Tsai FJ; Koeberl DD; Tsai WH; Chiu PC; Chang CL Mol Genet Metab Rep; 2017 Jun; 11():31-35. PubMed ID: 28480166 [TBL] [Abstract][Full Text] [Related]
25. 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]
26. Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study. Cerón-Rodríguez M; Castillo-García D; Acosta-Rodríguez-Bueno CP; Aguirre-Hernández J; Murillo-Eliosa JR; Valencia-Mayoral P; Escobar-Sánchez A; Salgado-Loza JL Mol Genet Genomic Med; 2022 Jul; 10(7):e1957. PubMed ID: 35532199 [TBL] [Abstract][Full Text] [Related]
29. The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients. Al-Hassnan ZN; Khalifa OA; Bubshait DK; Tulbah S; Alkorashy M; Alzaidan H; Alowain M; Rahbeeni Z; Al-Sayed M Mol Genet Metab Rep; 2018 Jun; 15():50-54. PubMed ID: 30023291 [TBL] [Abstract][Full Text] [Related]
30. 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]
31. The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan. Chiang SC; Chien YH; Chang KL; Lee NC; Hwu WL Int J Neonatal Screen; 2020 Jun; 6(2):30. PubMed ID: 33073026 [TBL] [Abstract][Full Text] [Related]
32. 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]
33. Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease. Kishnani PS; Gibson JB; Gambello MJ; Hillman R; Stockton DW; Kronn D; Leslie ND; Pena LDM; Tanpaiboon P; Day JW; Wang RY; Goldstein JL; An Haack K; Sparks SE; Zhao Y; Hahn SH; Genet Med; 2019 Nov; 21(11):2543-2551. PubMed ID: 31086307 [TBL] [Abstract][Full Text] [Related]
34. The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management. Kishnani PS; Beckemeyer AA; Mendelsohn NJ Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):1-7. PubMed ID: 22253049 [TBL] [Abstract][Full Text] [Related]
35. The emerging phenotype of late-onset Pompe disease: A systematic literature review. Chan J; Desai AK; Kazi ZB; Corey K; Austin S; Hobson-Webb LD; Case LE; Jones HN; Kishnani PS Mol Genet Metab; 2017 Mar; 120(3):163-172. PubMed ID: 28185884 [TBL] [Abstract][Full Text] [Related]
36. The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa. Baek RC; Palmer R; Pomponio RJ; Lu Y; Ma X; McVie-Wylie AJ Mol Genet Metab Rep; 2016 Sep; 8():48-50. PubMed ID: 27489778 [TBL] [Abstract][Full Text] [Related]
37. Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis. Prakash S; Penn JD; Jackson KE; Dean LW J Genet Couns; 2022 Dec; 31(6):1404-1420. PubMed ID: 35915971 [TBL] [Abstract][Full Text] [Related]
38. [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]
39. 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]