103 related articles for article (PubMed ID: 24338761)
1. Rupture of the middle cerebral artery aneurysm as a presenting symptom of late-onset Pompe disease in an adult with a novel GAA gene mutation.
Peric S; Fumic K; Bilic K; Reuser A; Rakocevic Stojanovic V
Acta Neurol Belg; 2014 Jun; 114(2):165-6. PubMed ID: 24338761
[No Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease.
Aykut A; Onay H; Kose M; Erbas Canda E; Karaca E; Coker M; Ozkinay F
J Pediatr Endocrinol Metab; 2014 Nov; 27(11-12):1265-7. PubMed ID: 25026126
[TBL] [Abstract][Full Text] [Related]
5. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Kroos MA; Pomponio RJ; Hagemans ML; Keulemans JL; Phipps M; DeRiso M; Palmer RE; Ausems MG; Van der Beek NA; Van Diggelen OP; Halley DJ; Van der Ploeg AT; Reuser AJ
Neurology; 2007 Jan; 68(2):110-5. PubMed ID: 17210890
[TBL] [Abstract][Full Text] [Related]
6. A Novel Mutation of the Gaa Gene in a Patient with Early-Onset Pompe Disease Lacking a Disease-Specific Pathology.
Kilic B; Ayse Kartal C
Genet Couns; 2016; 27(2):255-7. PubMed ID: 29485833
[No Abstract] [Full Text] [Related]
7. 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]
8. Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II.
Galehdari H; Emami M; Mohammadian G; Khodadadi A; Azmoon S; Baradaran M
Arch Iran Med; 2013 Feb; 16(2):126-8. PubMed ID: 23360637
[TBL] [Abstract][Full Text] [Related]
9. Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.
Palmer RE; Amartino HM; Niizawa G; Blanco M; Pomponio RJ; Chamoles NA
Neuromuscul Disord; 2007 Jan; 17(1):16-22. PubMed ID: 17056254
[TBL] [Abstract][Full Text] [Related]
10. The genotype-phenotype correlation in Pompe disease.
Kroos M; Hoogeveen-Westerveld M; van der Ploeg A; Reuser AJ
Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):59-68. PubMed ID: 22253258
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. [Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II].
Liu Q; Zhao J; Wang ZX; Zhang W; Yuan Y
Zhonghua Yi Xue Za Zhi; 2013 Jul; 93(25):1981-5. PubMed ID: 24169249
[TBL] [Abstract][Full Text] [Related]
14. Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.
Park HD; Lee DH; Choi TY; Lee YK; Lee SY; Kim JW; Ki CS; Lee YW
Ann Clin Lab Sci; 2013; 43(3):311-6. PubMed ID: 23884227
[TBL] [Abstract][Full Text] [Related]
15. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
Savarese M; Torella A; Musumeci O; Angelini C; Astrea G; Bello L; Bruno C; Comi GP; Di Fruscio G; Piluso G; Di Iorio G; Ergoli M; Esposito G; Fanin M; Farina O; Fiorillo C; Garofalo A; Giugliano T; Magri F; Minetti C; Moggio M; Passamano L; Pegoraro E; Picillo E; Sampaolo S; Santorelli FM; Semplicini C; Udd B; Toscano A; Politano L; Nigro V
Neuromuscul Disord; 2018 Jul; 28(7):586-591. PubMed ID: 29880332
[TBL] [Abstract][Full Text] [Related]
16. A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
Dou W; Peng C; Zheng J; Gu X; Fu L; Martiniuk F; Sheng HZ
Clin Chim Acta; 2006 Dec; 374(1-2):145-6. PubMed ID: 16782080
[No Abstract] [Full Text] [Related]
17. Rigid spine syndrome revealing late-onset Pompe disease.
Laforêt P; Doppler V; Caillaud C; Laloui K; Claeys KG; Richard P; Ferreiro A; Eymard B
Neuromuscul Disord; 2010 Feb; 20(2):128-30. PubMed ID: 20005713
[TBL] [Abstract][Full Text] [Related]
18. Novel probable pathological variant c.1249A>C in exon 7 of the GAA gene associated with Pompe disease in adults.
Roche Bueno JC; Arcos Sánchez C; Salgado Álvarez de Sotomayor F; Izquierdo-Álvarez S; Miramar Gallart MD; Solera García J
Neurologia (Engl Ed); 2018 Jun; 33(5):346-348. PubMed ID: 28431840
[No Abstract] [Full Text] [Related]
19. Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD).
Mormina E; Musumeci O; Tessitore A; Ciranni A; Tavilla G; Pitrone A; Vinci SL; Caragliano AA; Longo M; Granata F; Toscano A
Neurol Sci; 2021 Jun; 42(6):2411-2419. PubMed ID: 33067680
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]