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3. Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group. ; Al Jasmi F; Al Jumah M; Alqarni F; Al-Sanna'a N; Al-Sharif F; Bohlega S; Cupler EJ; Fathalla W; Hamdan MA; Makhseed N; Nafissi S; Nilipour Y; Selim L; Shembesh N; Sunbul R; Tonekaboni SH BMC Neurol; 2015 Oct; 15():205. PubMed ID: 26471939 [TBL] [Abstract][Full Text] [Related]
5. A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting. Al Shehri A; Al-Asmi A; Al Salti AM; Almadani A; Hassan A; Bamaga AK; Cupler EJ; Al-Hashel J; Alabdali MM; Alanazy MH; Noori S J Neuromuscul Dis; 2022; 9(5):661-673. PubMed ID: 35754286 [TBL] [Abstract][Full Text] [Related]
6. Diagnostic criteria for late-onset (childhood and adult) Pompe disease. American Association of Neuromuscular & Electrodiagnostic Medicine Muscle Nerve; 2009 Jul; 40(1):149-60. PubMed ID: 19533647 [TBL] [Abstract][Full Text] [Related]
7. Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale. Hundsberger T; Schoser B; Leupold D; Rösler KM; Putora PM J Neurol; 2019 Aug; 266(8):2010-2017. PubMed ID: 31104135 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Umapathysivam K; Hopwood JJ; Meikle PJ Clin Chem; 2001 Aug; 47(8):1378-83. PubMed ID: 11468225 [TBL] [Abstract][Full Text] [Related]
13. Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report. Zhang B; Zhao Y; Liu J; Li L; Shan J; Zhao D; Yan C Neuropsychiatr Dis Treat; 2016; 12():713-7. PubMed ID: 27099502 [TBL] [Abstract][Full Text] [Related]
14. [Diagnosis recommendations for late-onset Pompe disease]. Brito-Avô L; Alves JD; Costa JM; Valverde A; Santos L; Araújo F; Aguiar P; Marinho A; Oliveira A; Gomes D Acta Med Port; 2014; 27(4):525-9. PubMed ID: 25203965 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. The generation of induced pluripotent stem cells (iPSCs) from patients with infantile and late-onset types of Pompe disease and the effects of treatment with acid-α-glucosidase in Pompe's iPSCs. Higuchi T; Kawagoe S; Otsu M; Shimada Y; Kobayashi H; Hirayama R; Eto K; Ida H; Ohashi T; Nakauchi H; Eto Y Mol Genet Metab; 2014 May; 112(1):44-8. PubMed ID: 24642446 [TBL] [Abstract][Full Text] [Related]
17. A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations. Wang RY Int J Neonatal Screen; 2020 Mar; 6(1):22. PubMed ID: 33073019 [TBL] [Abstract][Full Text] [Related]
18. Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities? McIntosh P; Austin S; Sullivan J; Bailey L; Bailey C; Viskochil D; Kishnani PS Am J Med Genet A; 2017 Oct; 173(10):2628-2634. PubMed ID: 28763149 [TBL] [Abstract][Full Text] [Related]
19. Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation. But WM; Lee SH; Chan AO; Lau GT Hong Kong Med J; 2009 Dec; 15(6):474-7. PubMed ID: 19966354 [TBL] [Abstract][Full Text] [Related]
20. Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease. Umapathysivam K; Hopwood JJ; Meikle PJ Clin Chim Acta; 2005 Nov; 361(1-2):191-8. PubMed ID: 15993875 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]