A case of Pompe disease in infant by E. F. Sudorgina, S. B. Choloyan, M. V. Sheenkova, L. P. Kolesnikova

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Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert by Ayşe Akyüz, Aslı İnci, İlyas Okur, Leyla Tümer, Fatih Süheyl Ezgü

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EVALUATION OF ENZYME REPLACEMENT THERAPY EFFECTIVENESS IN CHILDREN WITH GAUCHER’S DISEASE ACCORDING TO THE INTERNATIONAL STUDIES by O. S. Gundobina, G. B. Movsisyan, L. S. Namazova-Baranova

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Results of 14-year-long Enzyme Replacement Therapy in a Patient with Mucopolysaccharidosis Type II: Clinical Case by Natalia V. Zhurkova, Nato D. Vashakmadze, Ludmila K. Mikhaylova, Marina A. Babaykina, Nina V. Fedorova, Elena Yu. Voskoboeva, Ekaterina Yu. Zakharova, Leyla S. Namazova-Baranova

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EFFECTIVENESS AND SAFETY OF VELAGLUCERASE ALFA IN TREATMENT OF GAUCHER DISEASE TYPE 1 (ACCORDING TO INTERNATIONAL STUDIES) by O. S. Gundobina, G. B. Movsisyan, E. V. Komarova, L. S. Namazova-Baranova

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MODERN APPROACHES TO THERAPY FOR CHILDREN WITH MUCOPOLYSACCHARIDOSIS by N. V. Buchinskaya, I. А. Chikova, E. А. Isupova, О. V. Kalashnikova, М. М. Kostik, V. G. Chasnyk

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A Randomized, Double‐Blind, 2‐Treatment, 2‐Period, Crossover Phase 1 Study to Compare the Pharmacokinetics, Safety and Tolerability of 60 IU/Kg of Abcertin and Cerezyme in Healthy... by Eungu Kang, Dohyung Kim, Soojin Hwang, Charlotte Lemech, Jessica Wharton, Yongyoon Lee, Han Wook Yoo, Beom Hee Lee

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Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia by Alan Zanardi, Antonio Conti, Marco Cremonesi, Patrizia D'Adamo, Enrica Gilberti, Pietro Apostoli, Carlo Vittorio Cannistraci, Alberto Piperno, Samuel David, Massimo Alessio

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ALGLUCOSIDASE ALFA — A NEW STAGE IN THE THERAPY OF INFANTILE POMPE DISEASE by E. N. Basargina, E. N. Arkhipova, V. S. Ermolenko

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Modern Approaches in Management of Children with Cystic fibrosis by Alexander A. Baranov, Leyla S. Namazova-Baranova, Sergey I. Kutsev, Sergey N. Avdeev, Elena V. Polevichenko, Andrey S. Belevskiy, Elena I. Kondratyeva, Olga I. Simonova, Nataliya Yu. Kashirskaya, Victoria D. Sherman, Anna Yu. Voronkova, Evgeniya L. Amelina, Tatyana E. Gembitskaya, Stanislav A. Krasovskiy, Alexey G. Chermenskiy, Tatyana A. Stepanenko, Liliia R. Selimzyanova, Elena A. Vishneva, Yulia V. Gorinova, Elena A. Roslavtseva, Irina K. Asherova, Natalya A. Ilyenkova, Sergey K. Zyryanov, Niso D. Odinayeva, Tatyana Yu. Maksimycheva, Alexander V. Orlov, Sergey Yu. Semykin, Marina Yu. Chernukha, Igor A. Shaginyan, Lusine R. Avetisyan, Galina L. Shumkova, Natalya A. Krylova, Ivan A. Dronov, Maria N. Kostyleva, Ludmila A. Zhelenina, Nikolay N. Klimko, Yuliya V. Borzova, Natalya V. Vasilyeva, Tatyana S. Bogomolova, Anna A. Speranskaya, Irina A. Baranova, Evgeny G. Furman, Vera V. Shadrina, Nikolay F. Shchapov, Nika V. Petrova, Ivan V. Pashkov, Olga M. Tsirulnikova, Dmitriy P. Polyakov, Valeriy M. Svistushkin, Eduard V. Sin'kov, Vyacheslav B. Chernykh, Svetlana A. Repina, Dmitriy A. Blagovidov, Mikhail P. Kostinov, Olga V. Kondratenko, Artem V. Lyamin, Svetlana V. Polikarpova, Alexander V. Polyakov, Tagui A. Adyan, Dmitry V. Goldshtein, Tatiana B. Bukharova, Anna S. Efremova, Elena S. Ovsyankina, Ludmila V. Panova, Irina V. Cherkashina

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Different and unusual presentation of Gaucher’s disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report by Bijan Keikhaei, Ladan Mafakher

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Impact of enzyme replacement therapy and migalastat on disease progression in females with fabry disease by Malte Lenders, Albina Nowak, Markus Cybulla, Jessica Kaufeld, Anja Friederike Köhn, Nicole Maria Muschol, Christine Kurschat, Eva Brand

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Fabry disease phenotyping in women from the complete Romanian cohort – time for early diagnostic awareness by Mursă Adriana, Militaru Sebastian, Rusu Elena, Onciul Sebastian, Neculae Gabriela, Adam Robert, Ciobotaru Lucia, Stefănescu Vlad, Dulămea Adriana, Rădoi Viorica, Popescu Bogdan Alexandru, Ismail Gener, Jurcuţ Ruxandra

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Results of a phase I open randomized comparative crossover clinical trial to assess the safety and pharmacokinetics of Glurazyme® (imiglucerase) in comparison with the reference pr... by S. B. Fitilev, A. V. Vozzhaev, I. I. Shkrebneva, D. A. Kudlay, E. V. Gapchenko, O. A. Markova, A. Yu. Borоzinets, A. A. Kazarov, М. S. Pantyushenko

Subjects: “…enzyme replacement therapy…”
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Damages of Cardiovascular System at Mucopolysaccharidosis Type I: Clinical Cases by Elena S. Vasichkina, Tatyana L. Vershinina, Tatyana S. Kovalchuk, Ekaterina N. Blinova, Elizaveta V. Malkina, Tatyana M. Pervunina

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Assessing osteopenia and osteoporosis with dual-energy x-ray absorptiometry studies in Fabry disease by Alyaa Shmara, Grace Lee, Mania Mgdsyan, Kathy Hall, Nadia Sadri, Angela Martin-Rios, Kelsey Valentine, Tatiana Kain, Madeleine Pahl, Lynda E. Polgreen, Virginia Kimonis

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Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt by Mervat A. M. Youssef, Esraa Hefzy Shaker, Nahed A M Saleh

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Idursulfase Beta (Hunterase) Therapeutic Experience in a Patient with Mucopolysaccharidosis Type II by Nato D. Vashakmadze, Nataliya V. Zhurkova, Ekaterina Yu. Zakharova, Ludmila K. Mikhaylova, Marina A. Babaykina

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A very rare cause of protein losing enteropathy: Gaucher disease by Mehmet Akif Göktaş, Ersin Gümüş, Hülya Demir, Hayriye Hızarcıoğlu Gülşen, İnci Nur Saltık-Temizel, Hasan Özen, Şafak Güçer, Aysel Yüce

Subjects: “…enzyme replacement therapy; lymphadenopathy; lysosomal storage disorder; Gaucher disease…”
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Antibodies to recombinant human alpha-L-iduronidase prevent disease correction in cortical bone in MPS I mice by Sarah C. Hurt, Steven Q. Le, Shih-hsin Kan, Quang D. Bui, Michael D. Brodt, Patricia I. Dickson

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