Publications:

The Impact of Kidney Biopsy for Fabry Nephropathy Evaluation on Patients' Management and Long-Term Outcomes: Experience of a Single Center.

Biomedicines

Rusu, Elena-Emanuela EE; Zilisteanu, Diana-Silvia DS; Ciobotaru, Lucia-Mihaela LM; Gherghiceanu, Mihaela M; Procop, Alexandru A; Jurcut, Ruxandra-Oana RO; Dulamea, Adriana Octaviana AO; Sorohan, Bogdan Marian BM

Publication Date: 2022-06-27

Variant appearance in text: GLA: 797A>C

PubMed Link: 35884826

Variant Present in the following documents:

• Main text
• biomedicines-10-01520.pdf

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Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.

Frontiers In Pediatrics

Muntean, Carmen C; Starcea, Iuliana Magdalena IM; Stoica, Cristina C; Banescu, Claudia C

Publication Date: 2022

Variant appearance in text: GLA: 797A>C; D266A

PubMed Link: 35722479

Variant Present in the following documents:

• Main text
• fped-10-908657.pdf

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Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.

Current Health Sciences Journal

Militaru, S S; Adam, R R; Ismail, G G; Rusu, E E; Dulămea, A A; Jurcut, R R

Publication Date: 2019

Variant appearance in text: GLA: D266A

PubMed Link: 32042454

Variant Present in the following documents:

• Main text
• CHSJ-45-3-272.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: D266A

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Rare presentation and wide intrafamilial variability of Fabry disease: A case report and review of the literature.

Anatolian Journal Of Cardiology

Militaru, Sebastian S; Adam, Robert R; Dorobantu, Lucian L; Ferrazzi, Paolo P; Iascone, Maria M; Radoi, Viorica V; Ismail, Gener G; Popescu, Bogdan A BA; Jurcut, Ruxandra R

Publication Date: 2019-09

Variant appearance in text: GLA: Asp266Ala

PubMed Link: 31475953

Variant Present in the following documents:

• Main text
• AJC-22-154.pdf

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