150 related articles for article (PubMed ID: 37212008)
1. [Analysis of lysosomal enzyme activity and genetic variants in a child with late-onset Pompe disease].
He T; Jiang J; Xiong Y; Yu D; Zhang X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):711-717. PubMed ID: 37212008
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.
Pascarella A; Terracciano C; Farina O; Lombardi L; Esposito T; Napolitano F; Franzese G; Panella G; Tuccillo F; la Marca G; Bernardini S; Boffo S; Giordano A; Di Iorio G; Melone MAB; Sampaolo S
J Cell Physiol; 2018 Aug; 233(8):5829-5837. PubMed ID: 29215735
[TBL] [Abstract][Full Text] [Related]
4. Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte MA; Filipp SL; Zaidi Z; Gurka MJ; Byrne BJ; Kang PB
J Hum Genet; 2021 Nov; 66(11):1089-1099. PubMed ID: 33972680
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. 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]
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. 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. 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]
10. Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara L; Wattanasirichaigoon D; Tim-Aroon T; Rojnueangnit K; Noojaroen S; Khongkraparn A; Sawangareetrakul P; Ketudat-Cairns JR; Charoenwattanasatien R; Champattanachai V; Kuptanon C; Pangkanon S; Svasti J
BMC Med Genet; 2019 Sep; 20(1):156. PubMed ID: 31510962
[TBL] [Abstract][Full Text] [Related]
11. Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.
Liu HX; Pu CQ; Shi Q; Zhang YT; Ban R
Chin Med J (Engl); 2018 Feb; 131(4):448-453. PubMed ID: 29451150
[TBL] [Abstract][Full Text] [Related]
12. Novel GAA mutations in patients with Pompe disease.
Turaça LT; de Faria DO; Kyosen SO; Teixeira VD; Motta FL; Pessoa JG; Rodrigues E Silva M; de Almeida SS; D'Almeida V; Munoz Rojas MV; Martins AM; Pesquero JB
Gene; 2015 Apr; 561(1):124-31. PubMed ID: 25681614
[TBL] [Abstract][Full Text] [Related]
13. Gene Therapy for Pompe Disease: The Time is now.
Colella P; Mingozzi F
Hum Gene Ther; 2019 Oct; 30(10):1245-1262. PubMed ID: 31298581
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. [Clinical sequelae of 17 cases with glycogen storage disease type II/Pompe disease].
Zhang HB; Zhang WM; Qiu JJ; Meng Y; Qiu ZQ
Zhonghua Er Ke Za Zhi; 2012 Jun; 50(6):415-9. PubMed ID: 22931935
[TBL] [Abstract][Full Text] [Related]
16. Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
Wens SC; Kroos MA; de Vries JM; Hoogeveen-Westerveld M; Wijgerde MG; van Doorn PA; van der Ploeg AT; Reuser AJ
Mol Genet Metab; 2012 Nov; 107(3):485-9. PubMed ID: 23000108
[TBL] [Abstract][Full Text] [Related]
17. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
Savarese M; Torella A; Musumeci O; Angelini C; Astrea G; Bello L; Bruno C; Comi GP; Di Fruscio G; Piluso G; Di Iorio G; Ergoli M; Esposito G; Fanin M; Farina O; Fiorillo C; Garofalo A; Giugliano T; Magri F; Minetti C; Moggio M; Passamano L; Pegoraro E; Picillo E; Sampaolo S; Santorelli FM; Semplicini C; Udd B; Toscano A; Politano L; Nigro V
Neuromuscul Disord; 2018 Jul; 28(7):586-591. PubMed ID: 29880332
[TBL] [Abstract][Full Text] [Related]
18. GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.
Gharesouran J; Jalaiei A; Hosseinzadeh A; Ghafouri-Fard S; Mokhtari Z; Ghahremanzadeh K; Rezazadeh N; Shiva S; Sadeghvand S; Taheri M; Rezazadeh M
Metab Brain Dis; 2020 Oct; 35(7):1127-1134. PubMed ID: 32504392
[TBL] [Abstract][Full Text] [Related]
19. [Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy].
Luo JH; Qiu WJ; Fang D; Ye J; Han LS; Zhang HW; Yu YG; Liang LL; Gu XF
Zhonghua Er Ke Za Zhi; 2017 Jun; 55(6):423-427. PubMed ID: 28592009
[No Abstract] [Full Text] [Related]
20. Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Napolitano F; Bruno G; Terracciano C; Franzese G; Palomba NP; Scotto di Carlo F; Signoriello E; De Blasiis P; Navarro S; Gialluisi A; Melone MAB; Sampaolo S; Esposito T
Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33807278
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
