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24. [Research advances in the diagnosis and treatment of Pompe disease]. Zhang XT; Ren WD Zhongguo Dang Dai Er Ke Za Zhi; 2018 Jul; 20(7):588-593. PubMed ID: 30022764 [TBL] [Abstract][Full Text] [Related]
25. 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]
28. 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]
29. 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]
30. GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry. Reuser AJJ; van der Ploeg AT; Chien YH; Llerena J; Abbott MA; Clemens PR; Kimonis VE; Leslie N; Maruti SS; Sanson BJ; Araujo R; Periquet M; Toscano A; Kishnani PS; On Behalf Of The Pompe Registry Sites Hum Mutat; 2019 Nov; 40(11):2146-2164. PubMed ID: 31342611 [TBL] [Abstract][Full Text] [Related]
31. A genetic modifier of symptom onset in Pompe disease. Bergsma AJ; In 't Groen SLM; van den Dorpel JJA; van den Hout HJMP; van der Beek NAME; Schoser B; Toscano A; Musumeci O; Bembi B; Dardis A; Morrone A; Tummolo A; Pasquini E; van der Ploeg AT; Pijnappel WWMP EBioMedicine; 2019 May; 43():553-561. PubMed ID: 30922962 [TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities? McIntosh P; Austin S; Sullivan J; Bailey L; Bailey C; Viskochil D; Kishnani PS Am J Med Genet A; 2017 Oct; 173(10):2628-2634. PubMed ID: 28763149 [TBL] [Abstract][Full Text] [Related]
35. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment. Yang CF; Liu HC; Hsu TR; Tsai FC; Chiang SF; Chiang CC; Ho HC; Lai CJ; Yang TF; Chuang SY; Lin CY; Niu DM Am J Med Genet A; 2014 Jan; 164A(1):54-61. PubMed ID: 24243590 [TBL] [Abstract][Full Text] [Related]
36. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hermans MM; van Leenen D; Kroos MA; Beesley CE; Van Der Ploeg AT; Sakuraba H; Wevers R; Kleijer W; Michelakakis H; Kirk EP; Fletcher J; Bosshard N; Basel-Vanagaite L; Besley G; Reuser AJ Hum Mutat; 2004 Jan; 23(1):47-56. PubMed ID: 14695532 [TBL] [Abstract][Full Text] [Related]
38. Extension of the Pompe mutation database by linking disease-associated variants to clinical severity. Niño MY; In 't Groen SLM; Bergsma AJ; van der Beek NAME; Kroos M; Hoogeveen-Westerveld M; van der Ploeg AT; Pijnappel WWMP Hum Mutat; 2019 Nov; 40(11):1954-1967. PubMed ID: 31254424 [TBL] [Abstract][Full Text] [Related]
39. Infantile-onset Pompe disease with neonatal debut: A case report and literature review. Martínez M; Romero MG; Guereta LG; Cabrera M; Regojo RM; Albajara L; Couce ML; Pipaon MS Medicine (Baltimore); 2017 Dec; 96(51):e9186. PubMed ID: 29390460 [TBL] [Abstract][Full Text] [Related]
40. Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease. Er TK; Chen CC; Chien YH; Liang WC; Kan TM; Jong YJ Clin Chim Acta; 2014 Feb; 429():18-25. PubMed ID: 24444888 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]