Publications:

Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.

High Blood Pressure & Cardiovascular Prevention : The Official Journal Of The Italian Society Of Hypertension

Rossi, Federica F; Svarstad, Einar E; Elsaid, Hassan H; Binaggia, Agnese A; Roggero, Letizia L; Auricchio, Sara S; Marti, Hans-Peter HP; Pieruzzi, Federico F

Publication Date: 2021-05

Variant appearance in text: GLA: 4C>T; Gln2Ter

PubMed Link: 33844184

Variant Present in the following documents:

• Main text
• 40292_2021_Article_450.pdf

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Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.

Orphanet Journal Of Rare Diseases

Varela, Patrícia P; Mastroianni Kirsztajn, Gianna G; Motta, Fabiana L FL; Martin, Renan P RP; Turaça, Lauro T LT; Ferrer, Henrique L F HLF; Gomes, Caio P CP; Nicolicht, Priscila P; Mara Marins, Maryana M; Pessoa, Juliana G JG; Braga, Marion C MC; D'Almeida, Vânia V; Martins, Ana Maria AM; Pesquero, João B JB

Publication Date: 2020-01-29

Variant appearance in text: GLA: 4C>T; Q2*; rs869312313

PubMed Link: 31996269

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1274.pdf

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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.

Genetics And Molecular Biology

Málaga, Diana Rojas DR; Brusius-Facchin, Ana Carolina AC; Siebert, Marina M; Pasqualim, Gabriela G; Saraiva-Pereira, Maria Luiza ML; Souza, Carolina F M de CFM; Schwartz, Ida V D IVD; Matte, Ursula U; Giugliani, Roberto R

Publication Date: 2019

Variant appearance in text: GLA: 4C>T; Gln2Ter

PubMed Link: 30985853

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-1678-4685-GMB-2018-0092.pdf

View BVdb publication page