104 related articles for article (PubMed ID: 38958145)
1. Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
Martinez-Montoya V; Sánchez-Sánchez LM; Sandoval-Pacheco R; Castro DMA; Arellano-Valdez CA; Ávila-Rejón CA; Aguilar-Juárez PA; Espino-Pluma M; González-Santillanes CA; Martínez-Segovia RI; Olmos-Morfin D; la Torre OP; Solís-Sánchez I; Espinosa MVM; Villarroel-Cortés CE; Velarde-Félix JS; López-Valdez J; Olaiz-Urbina J; Ricárdez-Marcial E; Vergara-Sánchez I; Radillo-Díaz P; Kazakova E; De la Fuente-Cortez B; Del Carmen Marquez-Quiróz L; Torres-Octavo B; Diaz-Martinez R
Mol Genet Genomic Med; 2024 Jul; 12(7):e2480. PubMed ID: 38958145
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. 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]
4. Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS; Gibson JB; Gambello MJ; Hillman R; Stockton DW; Kronn D; Leslie ND; Pena LDM; Tanpaiboon P; Day JW; Wang RY; Goldstein JL; An Haack K; Sparks SE; Zhao Y; Hahn SH;
Genet Med; 2019 Nov; 21(11):2543-2551. PubMed ID: 31086307
[TBL] [Abstract][Full Text] [Related]
5. Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Oba-Shinjo SM; da Silva R; Andrade FG; Palmer RE; Pomponio RJ; Ciociola KM; S Carvalho M; Gutierrez PS; Porta G; Marrone CD; Munoz V; Grzesiuk AK; Llerena JC; Berditchevsky CR; Sobreira C; Horovitz D; Hatem TP; Frota ER; Pecchini R; Kouyoumdjian JA; Werneck L; Amado VM; Camelo JS; Mattaliano RJ; Marie SK
J Neurol; 2009 Nov; 256(11):1881-90. PubMed ID: 19588081
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini C; Letard P; De Antonio M; Taouagh N; Perniconi B; Bouhour F; Echaniz-Laguna A; Orlikowski D; Sacconi S; Salort-Campana E; Solé G; Zagnoli F; Hamroun D; Froissart R; Caillaud C; Laforêt P;
J Inherit Metab Dis; 2018 Nov; 41(6):937-946. PubMed ID: 30155607
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Identification of two novel variants in GAA underlying infantile-onset Pompe disease in two Pakistani families.
Ullah A; Zubaida B; Cheema HA; Naeem M
J Pediatr Endocrinol Metab; 2020 Apr; 33(4):553-556. PubMed ID: 32049654
[TBL] [Abstract][Full Text] [Related]
10. A genetic modifier of symptom onset in Pompe disease.
Bergsma AJ; In 't Groen SLM; van den Dorpel JJA; van den Hout HJMP; van der Beek NAME; Schoser B; Toscano A; Musumeci O; Bembi B; Dardis A; Morrone A; Tummolo A; Pasquini E; van der Ploeg AT; Pijnappel WWMP
EBioMedicine; 2019 May; 43():553-561. PubMed ID: 30922962
[TBL] [Abstract][Full Text] [Related]
11. Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
Hernández-Arévalo P; Santotoribio JD; Delarosa-Rodríguez R; González-Meneses A; García-Morillo S; Jiménez-Arriscado P; Guerrero JM; Macher HC
Orphanet J Rare Dis; 2021 May; 16(1):233. PubMed ID: 34020684
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
Kroos MA; Pomponio RJ; Hagemans ML; Keulemans JL; Phipps M; DeRiso M; Palmer RE; Ausems MG; Van der Beek NA; Van Diggelen OP; Halley DJ; Van der Ploeg AT; Reuser AJ
Neurology; 2007 Jan; 68(2):110-5. PubMed ID: 17210890
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ; van der Ploeg AT; Chien YH; Llerena J; Abbott MA; Clemens PR; Kimonis VE; Leslie N; Maruti SS; Sanson BJ; Araujo R; Periquet M; Toscano A; Kishnani PS; On Behalf Of The Pompe Registry Sites
Hum Mutat; 2019 Nov; 40(11):2146-2164. PubMed ID: 31342611
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Late onset Pompe disease: an analysis of 19 patients from Mexico].
Sánchez-Sánchez LM; Martinez-Montoya V; Sandoval-Pacheco R; Torres-Octavo B; Anaya-Castro DM; Padilla-de la Torre O; Arellano-Valdez CA; Ávila-Rejón CA; Aguilar-Juárez PA; Espino-Pluma M; González-Santillanes Cruz A; Kazakova E; Martinez-Segovia RI; Olmos-Morfin D; Radillo-Díaz PF; Solís-Sánchez I; Vázquez Del Mercado-Espinosa M; Villarroel-Cortés CE; Velarde-Félix JS
Rev Neurol; 2022 Sep; 75(5):103-108. PubMed ID: 35880963
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]