Ana Jovanović
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View article: Long-term efficacy of migalastat in females with Fabry disease
Long-term efficacy of migalastat in females with Fabry disease Open
Background Fabry disease is a progressive, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to GLA variants. Females with Fabry disease often experience diagnostic delays and an underappreciated diseas…
View article: Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review
Clinical Efficacy and Real-World Effectiveness of Fabry Disease Treatments: A Systematic Literature Review Open
Objectives: This systematic literature review aimed to identify studies assessing the clinical efficacy and real-world effectiveness of current and emerging treatments for Fabry disease. Methods: Searches of the MEDLINE, EMBASE, and Cochra…
View article: From Perception to Action: Air Pollution Awareness and Behavioral Adjustments in Pregnant Women in Serbia
From Perception to Action: Air Pollution Awareness and Behavioral Adjustments in Pregnant Women in Serbia Open
In regions with sustained air pollution, the adoption of protective health behaviors is critical, particularly among pregnant women—a population marked by physiological vulnerability and heightened receptivity to preventive guidance. Under…
View article: The Role of Air Pollution Exposure and GSTM1-/GSTT1-Null Genotypes in Gestational Diabetes Mellitus Development: A Case–Control Study on Gene–Environment Interactions
The Role of Air Pollution Exposure and GSTM1-/GSTT1-Null Genotypes in Gestational Diabetes Mellitus Development: A Case–Control Study on Gene–Environment Interactions Open
As gestational diabetes mellitus (GDM) rises as a major public health concern, various factors have been identified as potential contributors, with air pollution drawing increasing attention. The mechanisms by which air pollutants lead to …
View article: Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre
Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre Open
This study highlights the clinical burden of FD, particularly among males with the c.644 A > G (p.N215S) variant. The frequent presence of cardiometabolic risk factors in patients with adverse outcomes reinforces the importance of early di…
View article: Characteristics of Inherited Metabolic Disorders Following Kidney Transplantation: A 13-Year Observational Study
Characteristics of Inherited Metabolic Disorders Following Kidney Transplantation: A 13-Year Observational Study Open
Background and Objectives: Inherited metabolic disorders (IMDs), primarily cystinosis, Fabry disease, and methylmalonic acidemia (MMA), are genetic conditions that typically result in multi-organ disease manifestations. Kidney function pro…
View article: Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre
Retrospective analysis of arginase 1 deficiency progression in adults over 5 years at a single metabolic centre Open
Background The clinical presentation of ARG1‐D is characterised by elevated arginine levels leading to neurological and mobility impairments. Information about long‐term outcomes in adults is lacking, which prompted us to undertake a retro…
View article: Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the <scp>followME</scp> Fabry <scp>Pathfinders</scp> registry
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the <span>followME</span> Fabry <span>Pathfinders</span> registry Open
Fabry disease is a progressive, X‐linked lysosomal disorder caused by reduced or absent α‐galactosidase A activity due to GLA variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat‐amenable GLA …
View article: Clinical utilisation of implantable loop recorders in adults with Fabry disease—a multi-centre snapshot study
Clinical utilisation of implantable loop recorders in adults with Fabry disease—a multi-centre snapshot study Open
Fabry disease (FD) is an X-linked deficiency of alpha-galactosidase-A, leading to lysosomal storage of sphingolipids in multiple organs. Myocardial accumulation contributes to arrhythmia and sudden death, the most common cause of FD mortal…
View article: Transcultural adaptation and validation of the Serbian version of Functional Assessment of Chronic Illness Therapy—Treatment Satisfaction—Patient Satisfaction (FACIT-TS-PS) questionnaire
Transcultural adaptation and validation of the Serbian version of Functional Assessment of Chronic Illness Therapy—Treatment Satisfaction—Patient Satisfaction (FACIT-TS-PS) questionnaire Open
Objective Transcultural adaptation and validation of FACIT-TS-PS questionnaire to Serbian language. Methods Standard forward and backward translation from English to Serbian language was performed. Pilot testing of FACIT-TS-PS was conducte…
View article: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study Open
Background Pegunigalsidase alfa is a PEGylated α-galactosidase A enzyme replacement therapy. BALANCE ( NCT02795676 ) assessed non-inferiority of pegunigalsidase alfa versus agalsidase beta in adults with Fabry disease with an annualised es…
View article: Myocardial T1 dispersion in fabry disease: comprehensive evaluation of a novel measurement of cardiovascular disease severity
Myocardial T1 dispersion in fabry disease: comprehensive evaluation of a novel measurement of cardiovascular disease severity Open
Background The cardiovascular manifestations of Fabry disease are common and represent the leading cause of death. Myocardial T1 dispersion has recently emerged as a robust predictor of adverse cardiac outcome in Fabry disease but the rela…
View article: Disease-specific therapy for the treatment of the cardiovascular manifestations of Fabry disease: a systematic review
Disease-specific therapy for the treatment of the cardiovascular manifestations of Fabry disease: a systematic review Open
Objective The cardiovascular manifestations of Fabry disease are common and represent the leading cause of death. Disease-specific therapy, including enzyme replacement therapy (ERT) and chaperone therapy (migalastat), is recommended for p…
View article: Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel Open
Background Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that manifests as a heterogeneous disease with renal, cardiac and nervous system involvement. The most common pain experienced by people with Fabry disease …
View article: 23 A validated model for the prediction of adverse cardiac outcome in patients with fabry disease derived from readily available clinical data
23 A validated model for the prediction of adverse cardiac outcome in patients with fabry disease derived from readily available clinical data Open
Background The cardiac manifestations of Fabry disease are common and are the leading cause of death. Recently, we developed a prognostic model for the prediction of adverse cardiac outcome in Fabry disease which incorporated cardiac magne…
View article: 7 Myocardial t1 dispersion in fabry disease: comprehensive evaluation of a novel measurement of cardiovascular disease severity
7 Myocardial t1 dispersion in fabry disease: comprehensive evaluation of a novel measurement of cardiovascular disease severity Open
Background The cardiovascular manifestations of Fabry disease are common and represent the leading cause of death. Myocardial T1 dispersion has recently emerged as a robust predictor of adverse cardiac outcome in Fabry disease but the rela…
View article: Inflammatory Fabry Cardiomyopathy Demonstrated Using Simultaneous [18F]-FDG PET-CMR
Inflammatory Fabry Cardiomyopathy Demonstrated Using Simultaneous [18F]-FDG PET-CMR Open
Using hybridized [18F]-fluorodeoxyglucose positron emission tomography with cardiac magnetic resonance, we identify active myocardial inflammation and demonstrate its relationship with late gadolinium enhancement, in Fabry disease. We demo…
View article: Defect-free graphene enhances enzyme delivery to fibroblasts derived from patients with lysosomal storage disorders
Defect-free graphene enhances enzyme delivery to fibroblasts derived from patients with lysosomal storage disorders Open
Biocompatible cationic graphene flakes efficiently complex and deliver the enzyme to the lysosomes of the fibroblasts derived from the patients with Mucopolysaccharidosis VI, leading to enhanced degradation of the accumulated lysosomal sub…
View article: Tinnitus risk factors and treatment in adolescents
Tinnitus risk factors and treatment in adolescents Open
Introduction: Tinnitus is conscious perception of sound without an external sound stimulus. The origin of the name has its root in the Latin word tinnire (to ring). The sound can be buzzing, ringing, hissing, and is rarely heard as voice, …
View article: Draft Genome Sequence of Enterococcus dispar CoE-457-22, Isolated from Traditionally Produced Montenegrin Dry Sausage
Draft Genome Sequence of Enterococcus dispar CoE-457-22, Isolated from Traditionally Produced Montenegrin Dry Sausage Open
Enterococcus dispar was isolated for the first time from synovial fluid and stool cultures and described as a new species in 1991. Here, we report the genome of E. dispar CoE-457-22, which was obtained from traditionally produced Montenegr…
View article: Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry Open
During sustained treatment with agalsidase beta in young Fabry patients with a predicted classic phenotype or with unclassified GLA variants with similar characteristics, the decline in eGFR was modest among male and female patients with L…