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7. Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease. Lin N; Huang J; Violante S; Orsini JJ; Caggana M; Hughes EE; Stevens C; DiAntonio L; Chieh Liao H; Hong X; Ghomashchi F; Babu Kumar A; Zhou H; Kornreich R; Wasserstein M; Gelb MH; Yu C Clin Chem; 2017 Apr; 63(4):842-851. PubMed ID: 28196920 [TBL] [Abstract][Full Text] [Related]
8. Progress and challenges of gene therapy for Pompe disease. Ronzitti G; Collaud F; Laforet P; Mingozzi F Ann Transl Med; 2019 Jul; 7(13):287. PubMed ID: 31392199 [TBL] [Abstract][Full Text] [Related]
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10. The Clinical Management of Pompe Disease: A Pediatric Perspective. Marques JS Children (Basel); 2022 Sep; 9(9):. PubMed ID: 36138713 [TBL] [Abstract][Full Text] [Related]
11. Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study). Yamauchi M; Nakayama H; Shiota S; Ohshima Y; Terada J; Nishijima T; Kosuga M; Kitamura T; Tachibana N; Oguri T; Shirahama R; Aoki Y; Ishigaki K; Sugie K; Yagi T; Muraki H; Fujita Y; Takatani T; Muro S Sleep Breath; 2021 Jun; 25(2):695-704. PubMed ID: 32808237 [TBL] [Abstract][Full Text] [Related]
12. A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy. Moravej H; Amirhakimi A; Showraki A; Amoozgar H; Hadipour Z; Nikfar G Iran J Med Sci; 2018 Mar; 43(2):218-222. PubMed ID: 29749992 [TBL] [Abstract][Full Text] [Related]
13. Pompe disease ascertained through The Lantern Project, 2018-2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis. Sniderman King L; Pan Y; Nallamilli BRR; Hegde M; Jagannathan L; Ramachander V; Lucas A; Markind J; Colzani R Mol Genet Metab; 2023 May; 139(1):107565. PubMed ID: 37087815 [TBL] [Abstract][Full Text] [Related]