445 related articles for article (PubMed ID: 25783438)
1. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
Musumeci O; la Marca G; Spada M; Mondello S; Danesino C; Comi GP; Pegoraro E; Antonini G; Marrosu G; Liguori R; Morandi L; Moggio M; Massa R; Ravaglia S; Di Muzio A; Filosto M; Tonin P; Di Iorio G; Servidei S; Siciliano G; Angelini C; Mongini T; Toscano A;
J Neurol Neurosurg Psychiatry; 2016 Jan; 87(1):5-11. PubMed ID: 25783438
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Evaluation prevalence of Pompe disease in Iranian patients with myopathies of unknown etiology.
Tehrani KHN; Sakhaeyan E; Sakhaeyan E
Electron Physician; 2017 Jul; 9(7):4886-4889. PubMed ID: 28894550
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
Preisler N; Lukacs Z; Vinge L; Madsen KL; Husu E; Hansen RS; Duno M; Andersen H; Laub M; Vissing J
Mol Genet Metab; 2013 Nov; 110(3):287-9. PubMed ID: 24011652
[TBL] [Abstract][Full Text] [Related]
6. Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study.
Confalonieri M; Vitacca M; Scala R; Polverino M; Sabato E; Crescimanno G; Ceriana P; Antonaglia C; Siciliano G; Ring N; Zacchigna S; Salton F; Vianello A;
Orphanet J Rare Dis; 2019 Mar; 14(1):62. PubMed ID: 30832705
[TBL] [Abstract][Full Text] [Related]
7. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.
Goldstein JL; Young SP; Changela M; Dickerson GH; Zhang H; Dai J; Peterson D; Millington DS; Kishnani PS; Bali DS
Muscle Nerve; 2009 Jul; 40(1):32-6. PubMed ID: 19533645
[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. 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]
10. Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
Montagnese F; Barca E; Musumeci O; Mondello S; Migliorato A; Ciranni A; Rodolico C; De Filippi P; Danesino C; Toscano A
J Neurol; 2015; 262(4):968-78. PubMed ID: 25673129
[TBL] [Abstract][Full Text] [Related]
11. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.
Gutiérrez-Rivas E; Bautista J; Vílchez JJ; Muelas N; Díaz-Manera J; Illa I; Martínez-Arroyo A; Olivé M; Sanz I; Arpa J; Fernández-Torrón R; López de Munáin A; Jiménez L; Solera J; Lukacs Z
Neuromuscul Disord; 2015 Jul; 25(7):548-53. PubMed ID: 25998610
[TBL] [Abstract][Full Text] [Related]
12. Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.
Pascarella A; Terracciano C; Farina O; Lombardi L; Esposito T; Napolitano F; Franzese G; Panella G; Tuccillo F; la Marca G; Bernardini S; Boffo S; Giordano A; Di Iorio G; Melone MAB; Sampaolo S
J Cell Physiol; 2018 Aug; 233(8):5829-5837. PubMed ID: 29215735
[TBL] [Abstract][Full Text] [Related]
13. Prevalence of adult Pompe disease in patients with proximal myopathic syndrome and undiagnosed muscle biopsy.
Golsari A; Nasimzadah A; Thomalla G; Keller S; Gerloff C; Magnus T
Neuromuscul Disord; 2018 Mar; 28(3):257-261. PubMed ID: 29326002
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Screening for Pompe disease in a Portuguese high risk population.
Almeida V; Conceição I; Fineza I; Coelho T; Silveira F; Santos M; Valverde A; Geraldo A; Maré R; Aguiar TC; Mendonça C; Martins J; Medeiros L; Barroso C; Vieira JP; Moreno T; Negrão L; Dias MS; Lacerda L; Evangelista T
Neuromuscul Disord; 2017 Aug; 27(8):777-781. PubMed ID: 28554557
[TBL] [Abstract][Full Text] [Related]
16. [Alarming signs and symptoms in the early diagnostics of late onset Pompe disease: super omnia clinica].
Nikitin SS; Kurbatov SA; Bredelev VA; Kovalchuk MO
Zh Nevrol Psikhiatr Im S S Korsakova; 2015; 115(12):19-24. PubMed ID: 26978490
[TBL] [Abstract][Full Text] [Related]
17. Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
Lorenzoni PJ; Kay CSK; Higashi NS; D'Almeida V; Werneck LC; Scola RH
Arq Neuropsiquiatr; 2018 Apr; 76(4):247-251. PubMed ID: 29742245
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.
Liao HC; Chan MJ; Yang CF; Chiang CC; Niu DM; Huang CK; Gelb MH
Clin Chem; 2017 Jul; 63(7):1271-1277. PubMed ID: 28450385
[TBL] [Abstract][Full Text] [Related]
20. Diagnosing lysosomal storage disorders: Pompe disease.
Bodamer OA; Dajnoki A
Curr Protoc Hum Genet; 2012 Oct; Chapter 17():Unit17.11. PubMed ID: 23074069
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
