Faculty of Medicine
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Item type:Publication, From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia-a case series(Frontiers Media S.A., 2026); ; ; ; BACKGROUND: Fabry disease is a rare X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, leading to progressive accumulation of globotriaosylceramide and Lyso-Gb3 across multiple organ systems. Timely initiation of enzyme replacement therapy (ERT) is critical to prevent irreversible organ damage; however, access to disease-specific treatment remains limited in many regions. METHODS: We describe a prospective observational case series representing the first national experience with ERT in North Macedonia in two male patients with advanced Fabry disease following kidney transplantation. Clinical, biochemical, cardiac, neurological, and patient-reported outcomes were prospectively evaluated after initiation of agalsidase beta (1 mg/kg) and agalsidase alfa (0.2 mg/kg), respectively. RESULTS: Both patients demonstrated substantial and sustained reductions in Lyso-Gb3 levels, confirming a robust biochemical response. Renal graft function remained stable without proteinuria, and no progression of cardiac involvement was observed. Clinical response varied between patients: the first patient experienced marked and sustained improvement in neuropathic pain and quality of life, whereas the second patient demonstrated persistent fluctuating neurological manifestations despite significant biochemical response. Persistent neurological impairment in the second patient was associated with combined central and peripheral nervous system involvement, including Fabry-related ischemic encephalopathy. CONCLUSION: In this two-patient case series, ERT was well-tolerated and associated with substantial reduction of biochemical disease burden and stabilization of renal graft and cardiac function. However, persistent neurological impairment despite marked Lyso-Gb3 reduction suggests limited reversibility of advanced central nervous system involvement, highlighting the importance of early diagnosis, family screening, and timely initiation of disease-specific therapy in Fabry disease. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Nephrotic Syndrome Induced by Tiopronin in a Male Patient with Cystinuria.(Macedonian Academy of Sciences and Arts, 2025-06); ; - Some of the metrics are blocked by yourconsent settings
Item type:Publication, SCHOOL SCREENING FOR SPINE DEFORMITY WITH CLINICAL TEST AND SPINE MOUSE DEVICE(the Iceland Glaciological Society (Jöklarannsóknafélag Íslands) and the Geoscience Society of Iceland, 2013-07-07); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Assessment of healthy life, nutrition and physical activity in different age groups(Progressive Science Publications, 2016-02-15) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Management of health care educational project for students in medical staff(Thomson Reuters / Société de Physique et d'Histoire Naturelle de Genève (SPHN), 2013-06-06); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Late Clinical Observation of Peripheral Facial Palsy Treated with Physical Therapy(Scholars Middle East Publishers, 2016-04); Angelovska Biljana - Some of the metrics are blocked by yourconsent settings
Item type:Publication, MEDICATION AND APPROPRIATE PHYSICAL THERAPY OF COMPLEX REGIONAL PAIN SYNDROME PATIENTS AFTER TRAUMA(Sanglah General Hospital, 2013); - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Stimulation of Bone Healing with Physical Therapy Modalities by Patients with Delayed Callus(CRIMSON PUBLISHERS, 2018-11-14) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Assessment of nutritional status and physical activity in the school population as an indicator of the quality of bone-promotion of management plan(Excellent Publishers (Regd 71/2013), 2014) - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Health Life Style Behaviors and Nutritional Habits of Medical Staff Students(Excellent Publishers (Regd 71/2013), 2015)