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9. Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants. Chan MY; Jalil JA; Yakob Y; Wahab SAA; Ali EZ; Khalid MKNM; Leong HY; Chew HB; Sivabalakrishnan JB; Ngu LH Orphanet J Rare Dis; 2023 Aug; 18(1):231. PubMed ID: 37542277 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. The new horizons for treatment of Late-Onset Pompe Disease (LOPD). Guémy C; Laforêt P Rev Neurol (Paris); 2023; 179(1-2):81-89. PubMed ID: 36609019 [TBL] [Abstract][Full Text] [Related]
12. Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state. Matsuoka T; Miwa Y; Tajika M; Sawada M; Fujimaki K; Soga T; Tomita H; Uemura S; Nishino I; Fukuda T; Sugie H; Kosuga M; Okuyama T; Umeda Y Mol Genet Metab Rep; 2016 Dec; 9():98-105. PubMed ID: 27896132 [TBL] [Abstract][Full Text] [Related]
13. Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD). Ripolone M; Violano R; Ronchi D; Mondello S; Nascimbeni A; Colombo I; Fagiolari G; Bordoni A; Fortunato F; Lucchini V; Saredi S; Filosto M; Musumeci O; Tonin P; Mongini T; Previtali S; Morandi L; Angelini C; Mora M; Sandri M; Sciacco M; Toscano A; Comi GP; Moggio M Neuropathol Appl Neurobiol; 2018 Aug; 44(5):449-462. PubMed ID: 28574618 [TBL] [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. 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]
16. Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report. Zhang Y; Zhang C; Shu JB; Zhang F World J Clin Cases; 2022 Apr; 10(10):3278-3283. PubMed ID: 35603335 [TBL] [Abstract][Full Text] [Related]
17. Pompe disease: early diagnosis and early treatment make a difference. Chien YH; Hwu WL; Lee NC Pediatr Neonatol; 2013 Aug; 54(4):219-27. PubMed ID: 23632029 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients. Feeney EJ; Austin S; Chien YH; Mandel H; Schoser B; Prater S; Hwu WL; Ralston E; Kishnani PS; Raben N Acta Neuropathol Commun; 2014 Jan; 2():2. PubMed ID: 24383498 [TBL] [Abstract][Full Text] [Related]