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2. Newborn screening for Pompe disease in Italy: Long-term results and future challenges. Gragnaniello V; Pijnappel PWWM; Burlina AP; In 't Groen SLM; Gueraldi D; Cazzorla C; Maines E; Polo G; Salviati L; Di Salvo G; Burlina AB Mol Genet Metab Rep; 2022 Dec; 33():100929. PubMed ID: 36310651 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. A large-scale nationwide newborn screening program for Pompe disease in Taiwan: towards effective diagnosis and treatment. Yang CF; Liu HC; Hsu TR; Tsai FC; Chiang SF; Chiang CC; Ho HC; Lai CJ; Yang TF; Chuang SY; Lin CY; Niu DM Am J Med Genet A; 2014 Jan; 164A(1):54-61. PubMed ID: 24243590 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Current status of newborn screening for Pompe disease in Japan. Sawada T; Kido J; Sugawara K; Momosaki K; Yoshida S; Kojima-Ishii K; Inoue T; Matsumoto S; Endo F; Ohga S; Hirose S; Nakamura K Orphanet J Rare Dis; 2021 Dec; 16(1):516. PubMed ID: 34922579 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening. Chien YH; Goldstein JL; Hwu WL; Smith PB; Lee NC; Chiang SC; Tolun AA; Zhang H; Vaisnins AE; Millington DS; Kishnani PS; Young SP JIMD Rep; 2015; 19():67-73. PubMed ID: 25681082 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan. Fukuhara Y; Fuji N; Yamazaki N; Hirakiyama A; Kamioka T; Seo JH; Mashima R; Kosuga M; Okuyama T Mol Genet Metab Rep; 2018 Mar; 14():3-9. PubMed ID: 29124014 [TBL] [Abstract][Full Text] [Related]
12. The First Year Experience of Newborn Screening for Pompe Disease in California. Tang H; Feuchtbaum L; Sciortino S; Matteson J; Mathur D; Bishop T; Olney RS Int J Neonatal Screen; 2020 Mar; 6(1):9. PubMed ID: 33073007 [TBL] [Abstract][Full Text] [Related]
13. [GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ]. Huang YL; Sheng HY; Jia XF; Su XY; Zhao XY; Xie T; Tang CF; Liu SC; Li XZ; Zhang W; Mei HF; Zeng CH; Liu L Zhonghua Er Ke Za Zhi; 2021 Mar; 59(3):189-194. PubMed ID: 33657692 [No Abstract] [Full Text] [Related]
14. Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review. Schoser B; Raben N; Varfaj F; Walzer M; Toscano A Mol Genet Metab Rep; 2024 Jun; 39():101085. PubMed ID: 38698877 [TBL] [Abstract][Full Text] [Related]
15. High-risk screening of late-onset Pompe disease: A different early portrait in China. Jiao K; Dong J; Luo S; Yu L; Ke Q; Wang Z; Luan X; Zhang X; Guo J; Chen Y; Li X; Tan S; Qian F; Jiang J; Yu X; Yue D; Liu C; Luo L; Li J; Qu Y; Chen L; Tu J; Sun C; Yan C; Song J; Xi J; Lin J; Lu J; Zhao C; Zhu W; Fang Q Front Neurol; 2022; 13():965207. PubMed ID: 36237614 [TBL] [Abstract][Full Text] [Related]
16. Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening. Pillai NR; Fabie NAV; Kaye TV; Rosendahl SD; Ahmed A; Hietala AD; Jorgenson AB; Lanpher BC; Whitley CB Mol Genet Metab; 2023; 140(1-2):107633. PubMed ID: 37414610 [TBL] [Abstract][Full Text] [Related]
17. Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China. Zhao HH; Ma Z; Ying ZX; Niu FN; Luo MT; Wang Z; Cheng X; Zhang QQ; Niu Q Ann Transl Med; 2021 Dec; 9(24):1803. PubMed ID: 35071497 [TBL] [Abstract][Full Text] [Related]
18. Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease. Chiang SC; Chen PW; Hwu WL; Lee AJ; Chen LC; Lee NC; Chiou LY; Chien YH Int J Neonatal Screen; 2018 Dec; 4(4):41. PubMed ID: 33072961 [TBL] [Abstract][Full Text] [Related]
19. The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan. Chiang SC; Chien YH; Chang KL; Lee NC; Hwu WL Int J Neonatal Screen; 2020 Jun; 6(2):30. PubMed ID: 33073026 [TBL] [Abstract][Full Text] [Related]
20. At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening. Lukacs Z; Oliva P; Nieves Cobos P; Scott J; Mechtler TP; Kasper DC Int J Neonatal Screen; 2020 Dec; 6(4):. PubMed ID: 33371305 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]