These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 32049654)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. The Novel Compound Heterozygous Mutations of GAA Gene in Mainland Chinese Patient with Classic Infantile-Onset Pompe Disease.
    Li J; Cui Y; Wang X; Wang Q; Wang H; Yan B
    Int Heart J; 2020 Jan; 61(1):178-182. PubMed ID: 31875618
    [TBL] [Abstract][Full Text] [Related]  

  • 7. CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.
    Kan SH; Huang JY; Harb J; Rha A; Dalton ND; Christensen C; Chan Y; Davis-Turak J; Neumann J; Wang RY
    Sci Rep; 2022 Dec; 12(1):21576. PubMed ID: 36517654
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
    Mori M; Haskell G; Kazi Z; Zhu X; DeArmey SM; Goldstein JL; Bali D; Rehder C; Cirulli ET; Kishnani PS
    Mol Genet Metab; 2017 Dec; 122(4):189-197. PubMed ID: 29122469
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family.
    Khan MA; Ullah A; Naeem M
    Mol Biol Rep; 2018 Aug; 45(4):565-570. PubMed ID: 29926385
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 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. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Clinical and GAA gene mutation analysis in 21 Chinese patients with classic infantile pompe disease.
    Su X; Sheng H; Huang Y; Li X; Zhang W; Zhao X; Li C; Liu L
    Eur J Med Genet; 2020 Dec; 63(12):103997. PubMed ID: 32711049
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
    Johnson K; Töpf A; Bertoli M; Phillips L; Claeys KG; Stojanovic VR; Perić S; Hahn A; Maddison P; Akay E; Bastian AE; Łusakowska A; Kostera-Pruszczyk A; Lek M; Xu L; MacArthur DG; Straub V
    Orphanet J Rare Dis; 2017 Nov; 12(1):173. PubMed ID: 29149851
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study.
    Cerón-Rodríguez M; Castillo-García D; Acosta-Rodríguez-Bueno CP; Aguirre-Hernández J; Murillo-Eliosa JR; Valencia-Mayoral P; Escobar-Sánchez A; Salgado-Loza JL
    Mol Genet Genomic Med; 2022 Jul; 10(7):e1957. PubMed ID: 35532199
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.