61 related articles for article (PubMed ID: 26297554)
21. In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.
van der Tol L; Verhamme C; van Schaik IN; van der Kooi AJ; Hollak CE; Biegstraaten M
JIMD Rep; 2016; 28():95-103. PubMed ID: 26563328
[TBL] [Abstract][Full Text] [Related]
22. Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.
Ferri L; Cavicchi C; Fiumara A; Parini R; Guerrini R; Morrone A
Clin Chim Acta; 2016 Jan; 452():82-6. PubMed ID: 26528637
[TBL] [Abstract][Full Text] [Related]
23. Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.
Gervas-Arruga J; Cebolla JJ; Irun P; Perez-Lopez J; Plaza L; Roche JC; Capablo JL; Rodriguez-Rey JC; Pocovi M; Giraldo P
BMC Genet; 2015 Sep; 16():109. PubMed ID: 26334996
[TBL] [Abstract][Full Text] [Related]
24. Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology.
da Rocha Siqueira TC; de Souza CF; Lompa P; Picarelli M; Scheibel I; Bender F; Guidobono R; Burin MG; Giugliani R
JIMD Rep; 2016; 26():99-102. PubMed ID: 26314583
[TBL] [Abstract][Full Text] [Related]
25. Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
Eng CM; Resnick-Silverman LA; Niehaus DJ; Astrin KH; Desnick RJ
Am J Hum Genet; 1993 Dec; 53(6):1186-97. PubMed ID: 7504405
[TBL] [Abstract][Full Text] [Related]
26. Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease.
Gou P; Leng J; Cheng X; Zhang J
Front Pediatr; 2023; 11():1057014. PubMed ID: 36873653
[TBL] [Abstract][Full Text] [Related]
27. Modeling of Fabry disease nephropathy using patient derived human induced pluripotent stem cells and kidney organoid system.
Cui S; Fang X; Lee H; Shin YJ; Koh ES; Chung S; Park HS; Lim SW; Lee KI; Lee JY; Yang CW; Chung BH
J Transl Med; 2023 Feb; 21(1):138. PubMed ID: 36814269
[TBL] [Abstract][Full Text] [Related]
28. A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.
Puentes-Tellez MA; Lerma-Barbosa PA; Garzón-Jaramillo RG; Suarez DA; Espejo-Mojica AJ; Guevara JM; Echeverri OY; Solano-Galarza D; Uribe-Ardila A; Alméciga-Díaz CJ
Heliyon; 2020 Mar; 6(3):e03635. PubMed ID: 32258481
[TBL] [Abstract][Full Text] [Related]
29. Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.
Čerkauskaitė A; Čerkauskienė R; Miglinas M; Laurinavičius A; Ding C; Rolfs A; Vencevičienė L; Barysienė J; Kazėnaitė E; Sadauskienė E
Medicina (Kaunas); 2019 May; 55(5):. PubMed ID: 31067829
[No Abstract] [Full Text] [Related]
30. Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.
Chong Y; Kim M; Koh ES; Shin SJ; Kim HS; Chung S
BMC Med Genet; 2016 Oct; 17(1):76. PubMed ID: 27776503
[TBL] [Abstract][Full Text] [Related]
31. Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J; Robinson M; Desnick RJ
Hum Mutat; 2005 Mar; 25(3):299-305. PubMed ID: 15712228
[TBL] [Abstract][Full Text] [Related]
32. Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Ashley GA; Shabbeer J; Yasuda M; Eng CM; Desnick RJ
J Hum Genet; 2001; 46(4):192-6. PubMed ID: 11322659
[TBL] [Abstract][Full Text] [Related]
33. Identification of mutations in Colombian patients affected with Fabry disease.
Uribe A; Mateus HE; Prieto JC; Palacios MF; Ospina SY; Pasqualim G; da Silveira Matte U; Giugliani R
Gene; 2015 Dec; 574(2):325-9. PubMed ID: 26297554
[TBL] [Abstract][Full Text] [Related]
34. Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
Germain DP; Poenaru L
Biochem Biophys Res Commun; 1999 Apr; 257(3):708-13. PubMed ID: 10208848
[TBL] [Abstract][Full Text] [Related]
35. Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Eng CM; Desnick RJ
Hum Mutat; 1994; 3(2):103-11. PubMed ID: 7911050
[TBL] [Abstract][Full Text] [Related]
36. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Ashton-Prolla P; Tong B; Shabbeer J; Astrin KH; Eng CM; Desnick RJ
J Investig Med; 2000 Jul; 48(4):227-35. PubMed ID: 10916280
[TBL] [Abstract][Full Text] [Related]
37.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
38.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
39.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]