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6. [Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease]. Bereznai B; Trauninger A; György I; Szakszon K; Almássy Z; Pál E; Herczegfalvi A; Várdi Visy K; Illés Z; Molnár MJ Orv Hetil; 2011 Sep; 152(39):1569-75. PubMed ID: 21920843 [TBL] [Abstract][Full Text] [Related]
7. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Lukacs Z; Nieves Cobos P; Wenninger S; Willis TA; Guglieri M; Roberts M; Quinlivan R; Hilton-Jones D; Evangelista T; Zierz S; Schlotter-Weigel B; Walter MC; Reilich P; Klopstock T; Deschauer M; Straub V; Müller-Felber W; Schoser B Neurology; 2016 Jul; 87(3):295-8. PubMed ID: 27170567 [TBL] [Abstract][Full Text] [Related]
8. Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II. McCready ME; Carson NL; Chakraborty P; Clarke JT; Callahan JW; Skomorowski MA; Chan AK; Bamforth F; Casey R; Rupar CA; Geraghty MT Mol Genet Metab; 2007 Dec; 92(4):325-35. PubMed ID: 17723315 [TBL] [Abstract][Full Text] [Related]
9. [Enzyme replacement therapy in Pompe's disease]. Merk T; Wibmer T; Schumann C; Krüger S Med Klin (Munich); 2007 Jul; 102(7):570-3. PubMed ID: 17634875 [TBL] [Abstract][Full Text] [Related]
10. Late Onset Pompe's Disease: Clinical, Pathological & Molecular Analysis of Two Adolescent Patients. Parameswaran AS; Singh ; Saini L; Aggarwal D J Assoc Physicians India; 2023 Jan; 71(1):1. PubMed ID: 37116048 [TBL] [Abstract][Full Text] [Related]
11. Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene. Tokatly Latzer I; Sagi L; Bali DS; Rehder C; Orbach R; Fattal-Valevski A Neuropediatrics; 2021 Dec; 52(6):475-479. PubMed ID: 33578445 [TBL] [Abstract][Full Text] [Related]
12. Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum. Musumeci O; Thieme A; Claeys KG; Wenninger S; Kley RA; Kuhn M; Lukacs Z; Deschauer M; Gaeta M; Toscano A; Gläser D; Schoser B Neuromuscul Disord; 2015 Sep; 25(9):719-24. PubMed ID: 26231297 [TBL] [Abstract][Full Text] [Related]
13. The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study. Ünver O; Hacıfazlıoğlu NE; Karatoprak E; Güneş AS; Sağer G; Kutlubay B; Sözen G; Saltık S; Yılmaz K; Kara B; Türkdoğan D Neuromuscul Disord; 2016 Nov; 26(11):796-800. PubMed ID: 27666774 [TBL] [Abstract][Full Text] [Related]
14. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. Mori M; Haskell G; Kazi Z; Zhu X; DeArmey SM; Goldstein JL; Bali D; Rehder C; Cirulli ET; Kishnani PS Mol Genet Metab; 2017 Dec; 122(4):189-197. PubMed ID: 29122469 [TBL] [Abstract][Full Text] [Related]
15. Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. Vorgerd M; Burwinkel B; Reichmann H; Malin JP; Kilimann MW Neurogenetics; 1998 Mar; 1(3):205-11. PubMed ID: 10737124 [TBL] [Abstract][Full Text] [Related]
16. [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]
17. Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy. Amiñoso C; Gordillo-Marañón M; Hernández J; Solera J Neuromuscul Disord; 2019 Mar; 29(3):187-191. PubMed ID: 30770309 [TBL] [Abstract][Full Text] [Related]
18. [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]
19. 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]
20. [Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy]. Luo JH; Qiu WJ; Fang D; Ye J; Han LS; Zhang HW; Yu YG; Liang LL; Gu XF Zhonghua Er Ke Za Zhi; 2017 Jun; 55(6):423-427. PubMed ID: 28592009 [No Abstract] [Full Text] [Related] [Next] [New Search]