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 *

298 related articles for article (PubMed ID: 31996269)

  • 1. Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
    Varela P; Mastroianni Kirsztajn G; Motta FL; Martin RP; Turaça LT; Ferrer HLF; Gomes CP; Nicolicht P; Mara Marins M; Pessoa JG; Braga MC; D'Almeida V; Martins AM; Pesquero JB
    Orphanet J Rare Dis; 2020 Jan; 15(1):30. PubMed ID: 31996269
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.
    Delarosa-Rodríguez R; Santotoribio JD; Paula HA; González-Meneses A; García-Morillo S; Jiménez-Arriscado P; Guerrero JM; Macher HC
    Clin Genet; 2021 Jun; 99(6):761-771. PubMed ID: 33527381
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Newborn screening for Fabry disease in the north-west of Spain.
    Colon C; Ortolano S; Melcon-Crespo C; Alvarez JV; Lopez-Suarez OE; Couce ML; Fernández-Lorenzo JR
    Eur J Pediatr; 2017 Aug; 176(8):1075-1081. PubMed ID: 28646478
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
    Ferri L; Guido C; la Marca G; Malvagia S; Cavicchi C; Fiumara A; Barone R; Parini R; Antuzzi D; Feliciani C; Zampetti A; Manna R; Giglio S; Della Valle CM; Wu X; Valenzano KJ; Benjamin R; Donati MA; Guerrini R; Genuardi M; Morrone A
    Clin Genet; 2012 Mar; 81(3):224-33. PubMed ID: 21517827
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.
    Liao HC; Hsu TR; Young L; Chiang CC; Huang CK; Liu HC; Niu DM; Chen YJ
    Mol Genet Metab; 2018 Feb; 123(2):140-147. PubMed ID: 28615118
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Fabry disease in the Spanish population: observational study with detection of 77 patients.
    Vieitez I; Souto-Rodriguez O; Fernandez-Mosquera L; San Millan B; Teijeira S; Fernandez-Martin J; Martinez-Sanchez F; Aldamiz-Echevarria LJ; Lopez-Rodriguez M; Navarro C; Ortolano S
    Orphanet J Rare Dis; 2018 Apr; 13(1):52. PubMed ID: 29631605
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males.
    Oliveira JP; Nowak A; Barbey F; Torres M; Nunes JP; Teixeira-E-Costa F; Carvalho F; Sampaio S; Tavares I; Pereira O; Soares AL; Carmona C; Cardoso MT; Jurca-Simina IE; Spada M; Ferreira S; Germain DP
    Eur J Med Genet; 2020 Feb; 63(2):103703. PubMed ID: 31200018
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
    De Brabander I; Yperzeele L; Ceuterick-De Groote C; Brouns R; Baker R; Belachew S; Delbecq J; De Keulenaer G; Dethy S; Eyskens F; Fumal A; Hemelsoet D; Hughes D; Jeangette S; Nuytten D; Redondo P; Sadzot B; Sindic C; Sheorajpanday R; Thijs V; Van Broeckhoven C; De Deyn PP
    Clin Neurol Neurosurg; 2013 Jul; 115(7):1088-93. PubMed ID: 23219219
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
    Duro G; Zizzo C; Cammarata G; Burlina A; Burlina A; Polo G; Scalia S; Oliveri R; Sciarrino S; Francofonte D; Alessandro R; Pisani A; Palladino G; Napoletano R; Tenuta M; Masarone D; Limongelli G; Riccio E; Frustaci A; Chimenti C; Ferri C; Pieruzzi F; Pieroni M; Spada M; Castana C; Caserta M; Monte I; Rodolico MS; Feriozzi S; Battaglia Y; Amico L; Losi MA; Autore C; Lombardi M; Zoccali C; Testa A; Postorino M; Mignani R; Zachara E; Giordano A; Colomba P
    Int J Mol Sci; 2018 Nov; 19(12):. PubMed ID: 30477121
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients.
    Duro G; Anania M; Zizzo C; Francofonte D; Giacalone I; D'Errico A; Marsana EM; Colomba P
    Int J Mol Sci; 2024 May; 25(10):. PubMed ID: 38791200
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diagnosing lysosomal storage disorders: Fabry disease.
    Bodamer OA; Johnson B; Dajnoki A
    Curr Protoc Hum Genet; 2013; Chapter 17():Unit17.13. PubMed ID: 23595598
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
    Rosa Neto NS; Bento JCB; Pereira RMR
    Adv Rheumatol; 2020 Jan; 60(1):7. PubMed ID: 31907047
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Use of a rare disease registry for establishing phenotypic classification of previously unassigned
    Germain DP; Oliveira JP; Bichet DG; Yoo HW; Hopkin RJ; Lemay R; Politei J; Wanner C; Wilcox WR; Warnock DG
    J Med Genet; 2020 Aug; 57(8):542-551. PubMed ID: 32161151
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Nationwide screening for Fabry disease in unselected stroke patients.
    Tomek A; Petra R; Paulasová Schwabová J; Olšerová A; Škorňa M; Nevšímalová M; Šimůnek L; Herzig R; Fafejtová Š; Mikulenka P; Táboříková A; Neumann J; Brzezny R; Sobolová H; Bartoník J; Václavík D; Vachová M; Bechyně K; Havlíková H; Prax T; Šaňák D; Černíková I; Ondečková I; Procházka P; Rajner J; Škoda M; Novák J; Škoda O; Bar M; Mikulík R; Dostálová G; Linhart A;
    PLoS One; 2021; 16(12):e0260601. PubMed ID: 34905550
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.
    Stiles AR; Zhang H; Dai J; McCaw P; Beasley J; Rehder C; Koeberl DD; McDonald M; Bali DS; Young SP
    Mol Genet Metab; 2020 Jul; 130(3):209-214. PubMed ID: 32418857
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prevalence of Fabry disease and GLA variants in young patients with acute stroke: The challenge to widen the screening. The Fabry-Stroke Italian Registry.
    Romani I; Sarti C; Nencini P; Pracucci G; Zedde M; Cianci V; Nucera A; Moller J; Orsucci D; Toni D; Palumbo P; Casella C; Pinto V; Barbarini L; Bella R; Scoditti U; Ragno M; Mezzapesa DM; Tassi R; Volpi G; Diomedi M; Bigliardi G; Cavallini AM; Chiti A; Ricci S; Cecconi E; Linoli G; Sacco S; Rasura M; Giordano A; Bonetti B; Melis M; Cariddi LP; Dossi RC; Grisendi I; Aguglia U; Di Ruzza MR; Melis M; Sbardella E; Vista M; Valenti R; Musolino RF; Passarella B; Direnzo V; Pennisi G; Genovese A; Di Marzio F; Sgobio R; Acampa M; Nannucci S; Dagostino F; Dell'Acqua ML; Cuzzoni MG; Picchioni A; Calchetti B; Notturno F; Di Lisi F; Forlivesi S; Delodovici ML; Buechner SC; Biagini S; Accavone D; Manna R; Morrone A; Inzitari D
    J Neurol Sci; 2024 Feb; 457():122905. PubMed ID: 38295534
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.
    Klein A; Klug K; Breyer M; Grüner J; Medala VK; Nordbeck P; Wanner C; Klopocki E; Üçeyler N
    J Inherit Metab Dis; 2024 Jul; 47(4):805-817. PubMed ID: 38618884
    [TBL] [Abstract][Full Text] [Related]  

  • 18. α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females.
    Baydakova GV; Ilyushkina AA; Moiseev S; Bychkov IO; Nikitina NV; Buruleva ТА; Zakharova EY
    Clin Chim Acta; 2020 Feb; 501():27-32. PubMed ID: 31770509
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Functional characterization of novel variants found in patients with suspected Fabry disease.
    Varela-Calais P; Nicolicht P; Paulo Martin R; Yamamoto J; D'Almeida V; Martins AM; Pesquero JB
    Clin Chim Acta; 2022 Sep; 534():156-160. PubMed ID: 35870541
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.
    Chien YH; Lee NC; Chiang SC; Desnick RJ; Hwu WL
    Mol Med; 2012 Jul; 18(1):780-4. PubMed ID: 22437327
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.