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3. Pompe disease: design, methodology, and early findings from the Pompe Registry. Byrne BJ; Kishnani PS; Case LE; Merlini L; Müller-Felber W; Prasad S; van der Ploeg A Mol Genet Metab; 2011 May; 103(1):1-11. PubMed ID: 21439876 [TBL] [Abstract][Full Text] [Related]
4. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry. Martinez-Marin RJ; Reyes-Leiva D; Nascimento A; Muelas N; Dominguez-González C; Paradas C; Olivé M; García-Romero M; Pascual-Pascual SI; Grau JM; Barba-Romero MA; Gomez-Caravaca MT; de Las Heras J; Casquero P; Mendoza MD; de León JC; Gutierrez A; Morís G; Blanco-Lago R; Ramos-Fransi A; Pintós G; García-Antelo MJ; Rabasa M; Morgado Y; Usón M; Miralles FJ; Bárcena-Llona JE; Gómez-Belda AB; Pedraza-Hueso MI; Hortelano M; Colomé A; Garcia-Martin G; Lopez de Munain A; Jericó I; Galán-Dávila L; Pardo J; Salgueiro-Origlia G; Alonso-Pérez J; Pla-Junca F; Schiava M; Segovia-Simón S; Díaz-Manera J Neuromuscul Disord; 2024 Jan; 34():1-8. PubMed ID: 38087756 [TBL] [Abstract][Full Text] [Related]
5. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Roberts M; Kishnani PS; van der Ploeg AT; Müller-Felber W; Merlini L; Prasad S; Case LE Mol Genet Metab; 2011 Dec; 104(4):574-82. PubMed ID: 21930409 [TBL] [Abstract][Full Text] [Related]
6. Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022. Lefeuvre C; De Antonio M; Bouhour F; Tard C; Salort-Campana E; Lagrange E; Behin A; Sole G; Noury JB; Sacconi S; Magot A; Nadaj-Pakleza A; Lacour A; Beltran S; Spinazzi M; Cintas P; Renard D; Michaud M; Bedat-Millet AL; Prigent H; Taouagh N; Arrassi A; Hamroun D; Attarian S; Laforêt P; Neurology; 2023 Aug; 101(9):e966-e977. PubMed ID: 37419682 [TBL] [Abstract][Full Text] [Related]
8. [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease]. Zhang HB; Zhang WM; Qiu JJ; Meng Y; Qiu ZQ Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):415-9. PubMed ID: 22931935 [TBL] [Abstract][Full Text] [Related]
9. Pompe disease in Austria: clinical, genetic and epidemiological aspects. Löscher WN; Huemer M; Stulnig TM; Simschitz P; Iglseder S; Eggers C; Moser H; Möslinger D; Freilinger M; Lagler F; Grinzinger S; Reichhardt M; Bittner RE; Schmidt WM; Lex U; Brunner-Krainz M; Quasthoff S; Wanschitz JV J Neurol; 2018 Jan; 265(1):159-164. PubMed ID: 29181627 [TBL] [Abstract][Full Text] [Related]
10. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Müller-Felber W; Horvath R; Gempel K; Podskarbi T; Shin Y; Pongratz D; Walter MC; Baethmann M; Schlotter-Weigel B; Lochmüller H; Schoser B Neuromuscul Disord; 2007 Oct; 17(9-10):698-706. PubMed ID: 17643989 [TBL] [Abstract][Full Text] [Related]
11. Familial Pompe Disease. Tecellioglu M; Kamisli O Med Arch; 2015 Oct; 69(5):342-4. PubMed ID: 26622091 [TBL] [Abstract][Full Text] [Related]
12. Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant. Herbert M; Case LE; Rairikar M; Cope H; Bailey L; Austin SL; Kishnani PS Mol Genet Metab; 2019 Feb; 126(2):106-116. PubMed ID: 30655185 [TBL] [Abstract][Full Text] [Related]
13. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Johnson K; Töpf A; Bertoli M; Phillips L; Claeys KG; Stojanovic VR; Perić S; Hahn A; Maddison P; Akay E; Bastian AE; Łusakowska A; Kostera-Pruszczyk A; Lek M; Xu L; MacArthur DG; Straub V Orphanet J Rare Dis; 2017 Nov; 12(1):173. PubMed ID: 29149851 [TBL] [Abstract][Full Text] [Related]
14. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant. Rairikar MV; Case LE; Bailey LA; Kazi ZB; Desai AK; Berrier KL; Coats J; Gandy R; Quinones R; Kishnani PS Mol Genet Metab; 2017 Nov; 122(3):99-107. PubMed ID: 28951071 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]