Important Dates
Detaylı Görüntüle

  1. 25 NOVEMBER 2021-THURSDAY
     

    PRESENTATION TOPICS: PRECLINICAL AND CLINICAL TRIALS
     

    HOUR
     
    SUBJECT-SPEAKER
    09.00-09.35 Opening
      Presentations
    Moderators:
    Dr. Alev Hasanoğlu, Dr. Turgay Coşkun
    09.35-09.47 Long-Term Survival and Mobility Rates and Cardiac Prognoses of 42 Infantile Patient with Pompe Disease Treated with High-dose Enzyme Replacement Therapy: Experience of Çukurova University
    Speaker:
    Dr. Neslihan Önenli Mungan
    09.47-09.59 Clinical, Biochemical and Molecular Genetic Characteristics of Our Cases with Pompe Disease Diagnosis
    Speaker:
    Dr. Oya Kıreker Köylü
    09.59-10.11 Establishing an Algorithm with Symptom Screening in Late-Onset Pompe Disease
    Speaker:
    Dr. Selda Fatma Bülbül
    10.11-10.20 Discussion
    10.20-10.30 Break
    10.30-11.15 Satellite Symposium-Patient in Focus, Experience Behind: Taliglucerase Alpha
    Moderator:
    Dr. Neslihan Önenli Mungan
      Bone Findings and Taliglucerase Alpha Experience
    Speaker:
    Dr. Ebru Canda
      Allergic Reactions and Taliglucerase Alpha Experience
    Speaker:
    Dr. Aslı İnci
      Taliglucerase Alpha Experience, Paradigms and Awareness in Different Age Groups and Disease Types
    Speaker:
    Dr. Neslihan Önenli Mungan
      Question answer
    11.15-11.55 Conference-1
    Use of Biomarkers in Lysosomal Diseases

    Moderators:
    Dr. Eser Sözmen, Dr. Gürsel Biberoğlu
    Speaker: Dr. Rıdvan Murat Öktem
    11.55-12.45 Conference-2
    Nonsense Suppression Therapy in Fabry Disease

    Moderators:
    Dr. Serap Dökmeci, Dr. Halide Akbaş
    Speaker: Dr. Halil Dündar
    12.45-13.20 Lunch Break
    13.20-14.15 Presentations
    Moderators:
    Dr. İlyas Okur, Dr. Çiğdem Seher Kasapkara
    13.20-13.25 Treatment Approach in Female Cases with X-linked Recessive Inherited Disease
    Speaker:
    Dr. Selda Fatma Bülbül
    13.25-13.30 2 Different Asymptomatic Gaucher Patients with Low Glucocerebrosidase Enzyme Level and GBA1 Mutation Positive
    Speaker:
    Dr. Sadettin Öztürk
    13.30-13.35 Clinical and Molecular Characteristics of Turkish Fucosidosis Patients and a Case with Unspecified Mutation and Atypical Clinical Features
    Speaker:
    Dr. Merve Emecan Şanlı
    13.35-13.40 A Case of Late Infantile Metachromatic Leukodystrophy Due to Novel Mutation in Aryl Sulfatase-A Gene
    Speaker:
    Dr. Esra Sarıgeçili
    13.40-13.45 Mucolipidosis Type III as a Rheumatological Disorder
    Speaker:
    Dr. Ayşe Ergül Bozacı
    13.45-13.50 Long-Term Results of Two Wolman's Disease Cases Receiving Sebelipase Alpha Treatment in Turkey
    Speaker:
    Dr. Gülhan Karakaya
    13.50-13.55 GM2 Gangliosidosis, AB Variant: Novel Variant and Atypical Presentation
    Speaker:
    Dr. Pelin Teke Kısa
    13.55-14.00 A Case of Mucolipidosis Type IIIƔ Presenting with Joint Restriction
    Speaker:
     Dr. Selen Has Özhan
    14.00-14.15 Discussion  
    14.15-15.00 Satellite Symposium-Changing MPS-II Patients’ Horizon with Long Term Elaprase Experience
    Moderator: Dr. Gülden Gökçay

    MPS-II Treatment Efficacy and Safety with Long Term Real World Evidence and HOS 2021 Update
    Speaker:
    Dr. Christina Lampe
    Future on the Horizon with Long Term Elaprase Experience: A Patient Case
    Speaker:
    Dr. Mehmet Cihan Balcı
    15.00-15.15 Break
      Presentations
    Moderators:
    Dr. Ali Dursun, Dr. Sema Kalkan Uçar
    15.15-15.27 Clinical Findings in MPS 6 Patients, Event-Based Evaluation Before and After ERT
    Speaker:
    Dr. Aslı İnci
    15.27-15.39 Emerging Gene Therapy for Mucopolysaccharidosis Type III: A Systematic Literature Review
    Speaker:
    Dr. Berna Şeker Yılmaz
    15.39-15.51 Echocardiographic Evaluation of Patients Diagnosed with Mucopolysaccharidosis Type III
    Speaker:
    Dr. Sevil Dorum
    15.51-16.00 Discussion
    16.00-16.15 Break
    16.15-17.00 Conference-3
    Alfa-mannosidosis (AM) Management Algorithm and the Role of Velmanase Alfa in AM Management. Monitoring AM Progression & Treatment Outcome

    Moderators:
    Dr. Mahmut Çoker, Dr. Fatih Süheyl Ezgü
    Speaker: Dr. Julia Hennermann
      Presentations
    Moderators:
    Dr. Mahmut Çoker, Dr. Fatih Süheyl Ezgü
    17.00-17.12 Newborn Screening for Metachromatic Leukodystrophy in Northern Germany- A Prospective Study
    Speaker:
    Dr. Petra Oliva
    17.12-17.24 Demographic and Clinical Characteristics of Patients with Hunter Syndrome
    Speaker:
    Dr. Zümrüt Arslan Gülten
    17.24-17.36 Lysosomal Acid Lipase Deficiency, Experience of 6 years of Enzyme Replacement Therapy Under 4 year old Patients
    Speaker:
    Dr. İrem Kaplan
    17.36-17.48 CLN2 Experience in the Russian Federation
    Speaker:
    Dr. Svetlana Mikhailova
    17.48-18.00 Rehabilitation of Adult MPS Patients
    Speaker:
    Dr. Daria Otvetchikova
    18.00-18.12 Long-Term Enzyme Replacement Therapy Experience in Mucopolysaccharidosis Type II
    Speaker:
    Dr. Esra Kara
    18.12-18.30 Discussion

  2. 26 NOVEMBER 2021-FRIDAY
     

    PRESENTATION TOPICS: PRECLINICAL AND CLINICAL TRIALS
     

    HOUR
     
    SUBJECT-SPEAKER
    09.00-09.05 Presentations
    Moderators:
    Dr. Gülden Gökçay, Dr. Tuba Eminoğlu
    09.05-09.17 Evaluation of Skeletal Findings and Responses to Enzyme Replacement Therapy in Non-Neuronopathic Gaucher Patients
    Speaker:
    Dr. Gonca Kılıç Yıldırım
    09.17-09.29 Gaucher's Disease Type IIIc In Which Awareness Increases Diagnosis: Experience of Çukurova University
    Speaker:
    Dr. Fatma Derya Bulut
    09.29-09.41 The Role of Glucosphingosine (Lyso-Gb1) Measurement in the Follow-up of Patients Diagnosed with Gaucher
    Speaker:
    Dr. Havva Yazıcı
    09-41-09.53 Investigation of Oxidative Process by Measuring Total Antioxidant Capacity and Total Oxidant Capacity in Gaucher Patients
    Speaker:
    Dr. Aynur Küçükçongar Yavaş
    09.53-10.05 Evaluation of Cardiac Findings in Gaucher Patients
    Speaker:
    Dr. Sabire Kocabaş
    10.05-10.20 Discussion
    10.20-10.30 Break
    10.30-11.15 Satellite Symposium-Niemann Pick Type C Disease

    Moderator:
    Dr. Leyla Tümer
    Speaker: Dr. Fatih Süheyl Ezgü
    11.15-12.00 Conference-4
    The Relation of GBA and Parkinson Disease: Accumulation and Degradation α-synuclein

    Moderators:
    Dr. Ali Dursun, Dr. Rıza Köksal Özgül
    Speaker: Dr. Serap Dökmeci
    12.00-13.30 Lunch Break
      Presentations
    Moderators:
    Dr. Ayşegül Tokatlı, Dr. Çiğdem Aktuğlu Zeybek
    13.30-13.42 Evaluation of Swallowing Functions of Patients Diagnosed with Mucopolysaccharidosis
    Speaker:
    Dr. Berrak Bilginer Gürbüz
    13.42-13.54 Follow-up Findings of Patients Diagnosed with Mucolipidosis Type II and III: Experience of Ege University Faculty of Medicine
    Speaker: Dr. Fehime Erdem
    13.54-14.06 Preliminary Pharmacokinetics and Pharmacodynamics Clinical Results of Tralesinidase Alfa (AX 250) for the Treatment of Sanfilippo Syndrome Type B
    Speaker: Dr. İlyas Okur
    14.06-14.15 Discussion
    14.15-15.00 Satellite Symposium-Velaglucerase Alpha Experience from Turkey & Abroad

    Moderator: Dr. Sema Kalkan Uçar
    Speakers: Dr. Shoshana Revel-Vilk, Dr. Deniz Kor
    15.00-15.10 Ara
    15.10-15.15 Presentations
    Moderators:
    Dr. Mübeccel Demirkol, Dr. Serap Sivri
    15.15-15.27 Frequency of Gaucher Disease Subtypes? 8 Gaucher Type 2 Patients with Different Clinical Findings
    Speaker:
    Dr. Burcu Köşeci
    15.27-15.39 Investigation of GBA and GLA Variants in Parkinson's Patients and Whole Exome Sequence Analysis
    Speaker:
    Dr. Merve Koç Yekedüz
    15.39-15.51 24 Cases Diagnosed with Mucolipidosis II and III with Different Phenotypic Features
    Speaker:
    Dr. Ezgi Burgaç
    15.51-16.00 Discussion
    16.00-16.15 Break
      Presentations
    Moderators:
    Dr. Fatoş Tanzer, Dr. Serap Sivri
    16.15-16.27 Evaluation of Autoimmunity and Immune Functions in 55 Patients with Mucopolysaccharidosis
    Speaker:
    Dr. Sebile Kılavuz
    16.27-16.39 Long-Term Follow-up Results of Our Cases with Mucolipidosis Type II/III
    Speaker:
    Dr. Hüseyin Bilgin
    16.39-16.51 Spinal Stenosis in MPS Patients
    Speaker:
    Dr. Vladimir S. Pereverzev
    16.51-17.03 National Consensus Study in Infantile Pompe Disease
    Speaker:
    Dr. Ekin Özsaydı Aktaşoğlu
    17.03-17.15 Evaluation of Bone Mineral Density in Patients with Mucopolysaccharidosis Type IVA
    and Type VI

    Speaker:
    Dr. Emine Pektaş
    17.15-17.30 Discussion
    17.30-18.15 Conference-5
    Rational Diagnosis and Rational Use of Drugs in Lysosomal Diseases

    Speaker:
    Dr. Aslı İnci

  3. 27 NOVEMBER 2021-SATURDAY
     

    PRESENTATION TOPICS: CASES
     

    HOUR
     
    SUBJECT-SPEAKER
    09.00-09.05 Presentations
    Moderators:
    Dr. Halil Sağlam, Dr. Neslihan Önenli Mungan
    09.05-09.17 Evaluation of the Unmet Needs of Children with Lysosomal Storage Disease in the COVID-19 Pandemic
    Speaker:
    Dr. Neslihan Doğulu
    09.17-09.29 Evaluation of Compliance with Enzyme Replacement Therapy in Lysosomal Storage Diseases with Telemedicine in the COVID-19 Pandemic
    Speaker:
    Dr. Merve Yoldaş Çelik
    09.29-09.41 Evaluation of COVID-19 Infection and Vaccination Status in Lysosomal Storage Diseases
    Speaker:
    Dr. Merve Yoldaş Çelik
    09-41-09.53 Hematopoietic Stem Cell Transplantation in Lysosomal Diseases
    Speaker:
    Dr. Koray Yalçın
    09.53-10.05 Evaluation of Clinical, Demographic and Laboratory Findings of Patients Diagnosed with GM1 Gangliosidosis: A Single Center Experience
    Speaker:
    Dr. Halil Tuna Akar
    10.05-10.20 Discussion
    10.20-10.30 Break
    10.30-11.15 Fabrazyme: An Experience of 20 Years Form Diagnosis to the Treatment
    Moderator:
    Dr. Fatih Süheyl Ezgü
    Speaker: Dr. Camilla Tøndel
    11.15-12.00 Conference-6
    Acid Ceramidase Deficiency: New Perspectives on a Broad Phenotypic Spectrum

    Moderators:
    Dr. Leyla Tümer, Dr. Halil İbrahim Aydın
    Speaker: Dr. Alexander Solyom
    12.00-13.30 Lunch Break
      Presentations
    Moderators:
    Dr. Nur Arslan, Dr. Mehmet Gündüz
    13.30-13.42 Simultaneous Mass Spectrometric Measurement of Plasma Lysosphingolipids
    Speaker:
    Dr. Bilge Karatoy Erdem
    13.42-13.54 Bone Health Assessment Results in 126 Patients with Mucopolysaccharidosisı
    Speaker: Dr. Deniz Kor
    13.54-14.00 Discussion
    14.00-14.45 Guacher Disease: What Do Specialists Frequently Ask?
    Moderator: Dr. Gülden Gökçay
    Speakers: Dr. Gülden Gökçay, Dr. Mehmet Cihan Balcı
    14.45-15.10 Break
    15.10-15.15 Presentations
    Moderators:
    Dr. Mustafa Kendirci, Dr. Selda Fatma Bülbül
    15.15-15.27 Natural Course Study of MPS III-B Patients
    Speaker:
    Dr. İlyas Okur
    15.27-15.39 Vascular and Structural Analysis of Retinal and Choroidal Changes in Fabry Disease
    Speaker:
    Dr. Kısmet Çıkı
    15.39-15.51 The Effectiveness of Targeted Next-Generation Sequence Analysis Panels in the Diagnosis and Differential Diagnosis of Neuronal Ceroid Lipofuscinosis
    Speaker:
    Dr. Melis Köse
    15.51-16.00 Discussion
    16.00-16.15 Break
    16.15-17.00 Prof. Dr. Alev Hasanoğlu Speech
    Dr. Leyla Tümer, Dr. Fatih Süheyl Ezgü
    Assessment of Neurocognitive and Neurobehavioral Aspects of MPS
    Speaker: Dr. Julie Eisengart
    17.00-17.45 Conference-7
    Moderators:
    Dr. Mustafa Kılıç, Dr. Aynur Küçükçongar Yavaş
    Lysosomal Storage Disorders in the Middle East: Unmet Needs and Challenges
    Speaker: Dr. Tawfeg Ben-Omran
    Gaucher Disease: A Deeper Look İnto the Less Common Complications

    Speaker: Dr. Moeen Alsayed
    17.45 Closing





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