138 related articles for article (PubMed ID: 27039993)
1. Reevaluating Muscle Biopsies in the Diagnosis of Pompe Disease: A Corroborative Report.
Genge A; Campbell N
Can J Neurol Sci; 2016 Jul; 43(4):561-6. PubMed ID: 27039993
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. [A retrospective study of six patients with late-onset Pompe disease].
Saux A; Laforet P; Pagès AM; Figarella-Branger D; Pellissier JF; Pagès M; Labauge P
Rev Neurol (Paris); 2008 Apr; 164(4):336-42. PubMed ID: 18439925
[TBL] [Abstract][Full Text] [Related]
9. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
Wens SC; Kroos MA; de Vries JM; Hoogeveen-Westerveld M; Wijgerde MG; van Doorn PA; van der Ploeg AT; Reuser AJ
Mol Genet Metab; 2012 Nov; 107(3):485-9. PubMed ID: 23000108
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
Laforêt P; Laloui K; Granger B; Hamroun D; Taouagh N; Hogrel JY; Orlikowski D; Bouhour F; Lacour A; Salort-Campana E; Penisson-Besnier I; Sacconi S; Zagnoli F; Chapon F; Eymard B; Desnuelle C; Pouget J;
Rev Neurol (Paris); 2013; 169(8-9):595-602. PubMed ID: 24008051
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Screening for late-onset Pompe disease in Poland.
Jastrzębska A; Potulska-Chromik A; Łusakowska A; Jastrzębski M; Lipowska M; Kierdaszuk B; Kamińska A; Kostera-Pruszczyk A
Acta Neurol Scand; 2019 Oct; 140(4):239-243. PubMed ID: 31125121
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.
Young SP; Piraud M; Goldstein JL; Zhang H; Rehder C; Laforet P; Kishnani PS; Millington DS; Bashir MR; Bali DS
Am J Med Genet C Semin Med Genet; 2012 Feb; 160C(1):50-8. PubMed ID: 22252961
[TBL] [Abstract][Full Text] [Related]
18. Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome.
Kostera-Pruszczyk A; Opuchlik A; Lugowska A; Nadaj A; Bojakowski J; Tylki-Szymanska A; Kaminska A
Neuromuscul Disord; 2006 Apr; 16(4):282-5. PubMed ID: 16531044
[TBL] [Abstract][Full Text] [Related]
19. Methods of diagnosis of patients with Pompe disease: Data from the Pompe Registry.
Kishnani PS; Amartino HM; Lindberg C; Miller TM; Wilson A; Keutzer J
Mol Genet Metab; 2014; 113(1-2):84-91. PubMed ID: 25085280
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]