Publications:

Increased Serum Interleukin-6 and Tumor Necrosis Factor Alpha Levels in Fabry Disease: Correlation with Disease Burden.

Clinics (Sao Paulo, Brazil)

Rosa Neto, Nilton Salles NS; Bento, Judith Campos de Barros JCB; Caparbo, Valéria de Falco VF; Pereira, Rosa Maria Rodrigues RMR

Publication Date: 2021

Variant appearance in text: GLA: A156D

PubMed Link: 34287477

Variant Present in the following documents:

• Main text
• cln-76-2643.pdf

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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences

Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A

Publication Date: 2020-01-31

Variant appearance in text: GLA: 467C>A; A156D

PubMed Link: 32023956

Variant Present in the following documents:

• Main text

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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: 467C>A; A156D; rs869312307

PubMed Link: 31996269

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1274.pdf

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Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients.

Molecular Genetics And Metabolism Reports

Rosa Neto, Nilton Salles NS; Bento, Judith Campos de Barros JCB; Pereira, Rosa Maria Rodrigues RMR

Publication Date: 2020-03

Variant appearance in text: GLA: A156D

PubMed Link: 31871893

Variant Present in the following documents:

• Main text
• main.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: A156D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page