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2. High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. Kumamoto S; Katafuchi T; Nakamura K; Endo F; Oda E; Okuyama T; Kroos MA; Reuser AJ; Okumiya T Mol Genet Metab; 2009 Jul; 97(3):190-5. PubMed ID: 19362502 [TBL] [Abstract][Full Text] [Related]
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4. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Labrousse P; Chien YH; Pomponio RJ; Keutzer J; Lee NC; Akmaev VR; Scholl T; Hwu WL Mol Genet Metab; 2010 Apr; 99(4):379-83. PubMed ID: 20080426 [TBL] [Abstract][Full Text] [Related]
5. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Chien YH; Chiang SC; Zhang XK; Keutzer J; Lee NC; Huang AC; Chen CA; Wu MH; Huang PH; Tsai FJ; Chen YT; Hwu WL Pediatrics; 2008 Jul; 122(1):e39-45. PubMed ID: 18519449 [TBL] [Abstract][Full Text] [Related]
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7. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Chamoles NA; Niizawa G; Blanco M; Gaggioli D; Casentini C Clin Chim Acta; 2004 Sep; 347(1-2):97-102. PubMed ID: 15313146 [TBL] [Abstract][Full Text] [Related]
8. A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. Okumiya T; Keulemans JL; Kroos MA; Van der Beek NM; Boer MA; Takeuchi H; Van Diggelen OP; Reuser AJ Mol Genet Metab; 2006 May; 88(1):22-8. PubMed ID: 16359900 [TBL] [Abstract][Full Text] [Related]
9. Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients. Momosaki K; Kido J; Yoshida S; Sugawara K; Miyamoto T; Inoue T; Okumiya T; Matsumoto S; Endo F; Hirose S; Nakamura K J Hum Genet; 2019 Aug; 64(8):741-755. PubMed ID: 31076647 [TBL] [Abstract][Full Text] [Related]
10. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Zhang H; Kallwass H; Young SP; Carr C; Dai J; Kishnani PS; Millington DS; Keutzer J; Chen YT; Bali D Genet Med; 2006 May; 8(5):302-6. PubMed ID: 16702880 [TBL] [Abstract][Full Text] [Related]
12. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots. Kallwass H; Carr C; Gerrein J; Titlow M; Pomponio R; Bali D; Dai J; Kishnani P; Skrinar A; Corzo D; Keutzer J Mol Genet Metab; 2007 Apr; 90(4):449-52. PubMed ID: 17270480 [TBL] [Abstract][Full Text] [Related]
13. Algorithm for Pompe disease newborn screening: results from the Taiwan screening program. Chiang SC; Hwu WL; Lee NC; Hsu LW; Chien YH Mol Genet Metab; 2012 Jul; 106(3):281-6. PubMed ID: 22578805 [TBL] [Abstract][Full Text] [Related]
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17. 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]
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