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146 results on '"X-linked genetic disorders"'

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1. Coexistence of Fabry Disease and Membranous Nephropathy: A Case Report.

2. Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease.

3. Prevalence of papillary muscle hypertrophy in fabry disease.

4. Nationwide screening of Fabry disease in patients with hypertrophic cardiomyopathy in Czech Republic.

5. Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.

6. Command Hospital Researcher Updates Current Data on Fabry Disease (Screening for Fabry disease in patients on Hemodialysis).

7. Findings from University of Catania in Fabry Disease Reported (Relationship between Capillaroscopic Architectural Patterns and Different Variant Subgroups in Fabry Disease: Analysis of Cases from a Multidisciplinary Center).

8. University of Naples Federico II Researchers Detail New Studies and Findings in the Area of Fabry Disease (Determination of Gb3 and Lyso-Gb3 in Fabry Disease-Affected Patients by LC-MRM/MS).

9. Wroclaw Medical University Researcher Describes New Findings in Fabry Disease (Myocardial Fibrosis Quantification Methods by Cardiovascular Magnetic Resonance Imaging in Patients with Fabry Disease).

10. Findings from Peking University First Hospital Broaden Understanding of Fabry Disease (Inflammatory cytokine expression in Fabry disease: impact of disease phenotype and alterations under enzyme replacement therapy).

11. Studies from University of Basque Country Provide New Data on Gene Therapy (Gene Therapy With Lipid Nanoparticles for Fabry Disease: Leveraging E-selectin for Targeted Delivery To Endothelial Cells).

12. Researchers' Work from University Hospital of Nephrology Focuses on Fabry Disease (Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis).

13. New Fabry Disease Study Results from University of Catania Described (Inflammation, Oxidative Stress, and Endothelial Dysfunction in the Pathogenesis of Vascular Damage: Unraveling Novel Cardiovascular Risk Factors in Fabry Disease).

14. Hereditary Cerebral Small Vessel Diseases Registry-Trial Ready Cohort (HCSVD-TRC).

15. The Characteristics of Cardiovascular Imaging Alterations in Patients With Fabry Cardiomyopathy: a Prospective, Multicenter, Observational Cohort Study.

16. Studies from Normandie University Have Provided New Data on Fabry Disease (Genome-wide expression analysis in a Fabry disease human podocyte cell line).

17. Stroke rates, risk factors, and aspirin prescribing trends in the Canadian Fabry Disease Initiative cohort.

18. Reports from Sanofi Add New Study Findings to Research in Fabry Disease (Reduction in kidney function decline and risk of severe clinical events in agalsidase beta-treated Fabry disease patients: A matched analysis from the Fabry Registry).

19. Study Results from Hospital Britanico Buenos Aires Provide New Insights into Left Ventricular Hypertrophy (Agalsidase Alfa Long-term Effect On Left Ventricular Hypertrophy In Fabry Disease).

20. Challenging the Conventional Treatment Initiation Paradigm: Early Detection of Irreversible Cellular Damage in Cardiac Biopsies of Fabry Disease Before the Formation of Gb3 Inclusion Bodies.

21. Research from General University Hospital Has Provided New Data on Fabry Disease (Anderson-Fabry Disease Homozygosity: Rare Case of Late-Onset Variant).

22. University College London (UCL) Researchers Report Research in Gene Therapy (Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications).

23. New Fabry Disease Study Findings Recently Were Published by Researchers at Faculty of Medicine (Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report).

24. New Findings in Fabry Disease Described from Indira Gandhi Institute of Medical Science (Zebra Bodies in the Kidney: Is it a Pathognomonic Finding of Fabry Disease?).

25. Institute of Nanotechnology Researcher Describes Advances in Fabry Disease (Detection of a-Galactosidase A Reaction in Samples Extracted from Dried Blood Spots Using Ion-Sensitive Field Effect Transistors).

26. Findings from Galicia Sur Health Research Institute (IIS Galicia Sur) Advance Knowledge in Fabry Disease (Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression).

27. Researchers Submit Patent Application, "Nanoparticles-Mediated Crispr-Cas9 For Gene Therapy", for Approval (USPTO 20240167061).

28. Findings from York University in the Area of Fabry Disease Described (Lessons Learned From the Canadian Fabry Disease Initiative for Future Risk-sharing and Managed Access Agreements for Pharmaceutical and Advanced Therapies In Canada).

29. New Findings in Left Ventricular Hypertrophy Described from University Hospital (Fabry Disease: Development and Progression of Left Ventricular Hypertrophy Despite Long-term Enzyme Replacement Therapy).

30. Study Findings from University of Campania 'Luigi Vanvitelli' Broaden Understanding of Left Ventricular Hypertrophy (Incidence and Risk Factors for Development of Left Ventricular Hypertrophy In Fabry Disease).

31. Studies from Berlin Have Provided New Data on Fabry Disease (Diagnostic value of left ventricular layer strain and specific regional strain patterns in cardiac amyloidosis and Fabry disease).

32. University Hospital Wurzburg Researcher Describes Advances in Fabry Disease (Dorsal root ganglion MRI imaging biomarker correlations with pain in Fabry disease).

33. Researchers at University of Naples Federico II Target Fabry Disease (Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease).

34. Researchers' from Hospital Universitario Son Llatzer Report Details of New Studies and Findings in the Area of Fabry Disease (Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease).

35. mavaCamten ObservationaL evIdence Global cOnsortium in HCM (COLLIGO-HCM).

36. Research from Medical University of Vienna in the Area of Fabry Disease Published [Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study].

37. Taiwan Registry of Hypertrophic Cardiomyopathy (THIC) Research Synopsis.

38. Chiesi Global Rare Diseases Announces Publication of Results from Fabry Disease Patient Survey.

39. Findings from Hospital Senhora da Oliveira in Fabry Disease Reported (Inflammation and Exosomes in Fabry Disease Pathogenesis).

40. University of Naples Federico II Researcher Reveals New Findings on Fabry Disease (Diet and Physical Activity in Fabry Disease: A Narrative Review).

41. Data on Fabry Disease Reported by Researchers at IRCCS Istituto delle Scienze Neurologiche di Bologna (Fabry disease in W162C mutation: a case report of two patients and a review of literature).

42. Exploring the Diagnostic Potential of miRNA Signatures in the Fabry Disease Serum: A Comparative Study of Automated and Manual Sample Isolations.

43. Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis.

44. Reports Outline Fabry Disease Study Results from Istanbul University-Cerrahpasa (Serum Neopterin, Biopterin, Tryptophan, and Kynurenine Levels in Patients with Fabry Disease).

45. Reports from Taipei City Hospital Add New Study Findings to Research in Fabry Disease (Increased prevalence of peripheral vestibular disorder among patients with Fabry disease).

46. Shanxi University Researcher Details New Studies and Findings in the Area of Fabry Disease (GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease).

47. Institute for Cancer Research and Treatment (IRCCS) Researchers Update Current Data on Fabry Disease (Infertility in Fabry's Disease: role of hypoxia and inflammation in determining testicular damage).

48. Studies from Konyang University Provide New Data on Fabry Disease (Peg-capped Ceria-zirconia Nanoparticles Improved Renal Fibrosis In Cellular and Animal Models of Fabry Disease).

49. New Findings from University of Wurzburg in the Area of Fabry Disease Described [in Vitro Characterization of Cells Derived From a Patient With The Gla Variant C.376a>g (P.s126g) Highlights a Non-pathogenic Role In Fabry...].

50. Study Findings from Johns Hopkins University Provide New Insights into Fabry Disease (Outcomes and Management of Kidney Transplant Recipients With Fabry Disease: a Review).

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