Sebelipase alfa for lysosomal acid lipase deficiency: 5‐year treatment experience from a phase 2 open‐label extension study
Malinová, Vĕra, Balwani, Manisha, Sharma, Reena, Arnoux, Jean‐Baptiste, Kane, John, Whitley, Chester B., Marulkar, Sachin, Abel, Florian
Published in Liver international (01.09.2020)
Published in Liver international (01.09.2020)
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Journal Article
Sebelipase Alfa Improves Dyslipidemia in Patients with Cholesteryl Ester Storage Disease
Tripuraneni, Radhika, MD, MPH, Sharma, Reena, MD, Balwani, Manisha, MD, MS, Bourdon, Chris, MD, Boyd, Simeon, MD, Breen, Catherine, MD, Quinn, Anthony, MBChB, PhD, Schneider, Eugene, MD, Kane, John, MD, PhD, Kessler, Bruce, MD, Deegan, Patrick, MD, Enns, Greg, MD, Stock, Eveline, MD, Honzik, Tomas, MD, PhD, Malinová, Věra, MuDr, Whitley, Chet, MD, PhD, Valayannopoulos, Vassili, MD, PhD, Burg, Jennifer, BA
Published in Journal of clinical lipidology (01.05.2013)
Published in Journal of clinical lipidology (01.05.2013)
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Journal Article
Acetyl-dl-leucine in Niemann-Pick type C: A case series
Bremova, Tatiana, Malinová, Věra, Amraoui, Yasmina, Mengel, Eugen, Reinke, Jörg, Kolníková, Miriam, Strupp, Michael
Published in Neurology (20.10.2015)
Published in Neurology (20.10.2015)
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Journal Article
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients
Malinová, Věra, Poupětová, Helena, Řeboun, Martin, Dvořáková, Lenka, Reichmannová, Stella, Švandová, Ivana, Murgašová, Lenka, Kasper, David C., Magner, Martin
Published in International journal of molecular sciences (01.10.2023)
Published in International journal of molecular sciences (01.10.2023)
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Journal Article
Clinical Features of Lysosomal Acid Lipase Deficiency
Burton, Barbara K., Deegan, Patrick B., Enns, Gregory M., Guardamagna, Ornella, Horslen, Simon, Hovingh, Gerard K., Lobritto, Steve J., Malinova, Vera, McLin, Valerie A., Raiman, Julian, Di Rocco, Maja, Santra, Saikat, Sharma, Reena, Sykut‐Cegielska, Jolanta, Whitley, Chester B., Eckert, Stephen, Valayannopoulos, Vassili, Quinn, Anthony G.
Published in Journal of pediatric gastroenterology and nutrition (01.12.2015)
Published in Journal of pediatric gastroenterology and nutrition (01.12.2015)
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Journal Article
Effect of sebelipase alfa after 2years in adults with lysosomal acid lipase deficiency
Rojas-Caro, Sandra, Whitley, Chester, Valayannopoulos, Vassili, Malinová, Věra, Sharma, Reena, Bourdon, Chris, Boyd, Simeon, Kessler, Bruce, Twelves, Christopher, Eckert, Stephen, Quinn, Anthony G.
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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Journal Article
Effect of sebelipase alfa after 2 years in adults with lysosomal acid lipase deficiency
Rojas-Caro, Sandra, Whitley, Chester, Valayannopoulos, Vassili, Malinová, Věra, Sharma, Reena, Bourdon, Chris, Boyd, Simeon, Kessler, Bruce, Twelves, Christopher, Eckert, Stephen, Quinn, Anthony G.
Published in Molecular genetics and metabolism (01.02.2015)
Published in Molecular genetics and metabolism (01.02.2015)
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Journal Article
Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review
Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolnikova, Miriam, Malinova, Vera, Insua, Jose Luis, Velten, Christian, Kolb, Stefan A
Published in Orphanet journal of rare diseases (07.02.2019)
Published in Orphanet journal of rare diseases (07.02.2019)
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Journal Article
A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C
Bremova‐Ertl, Tatiana, Abel, Larry, Walterfang, Mark, Salsano, Ettore, Ardissone, Anna, Malinová, Věra, Kolníková, Miriam, Gascón Bayarri, Jordi, Reza Tavasoli, Ali, Reza Ashrafi, Mahmoud, Amraoui, Yasmina, Mengel, Eugen, Kolb, Stefan A., Brecht, Andreas, Bardins, Stanislavs, Strupp, Michael
Published in European journal of neurology (01.09.2021)
Published in European journal of neurology (01.09.2021)
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Journal Article
Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings
Bremova-Ertl, Tatiana, Schiffmann, Raphael, Patterson, Marc C, Belmatoug, Nadia, Billette de Villemeur, Thierry, Bardins, Stanislavs, Frenzel, Claudia, Malinová, Věra, Naumann, Silvia, Arndt, Juliane, Mengel, Eugen, Reinke, Jörg, Strobl, Ralf, Strupp, Michael
Published in Frontiers in neurology (15.01.2018)
Published in Frontiers in neurology (15.01.2018)
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Journal Article
Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review
Pineda, Mercedes, Juríčková, Katarína, Karimzadeh, Parvaneh, Kolniková, Miriam, Malinová, Věra, Torres, Juan, Kolb, Stefan A
Published in Orphanet journal of rare diseases (02.07.2019)
Published in Orphanet journal of rare diseases (02.07.2019)
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Journal Article
Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis
Murgasova, Lenka, Jurovcik, Michal, Jesina, Pavle, Malinova, Vera, Bloomfield, Marketa, Zeman, Jiri, Magner, Martin
Published in International journal of pediatric otorhinolaryngology (01.08.2020)
Published in International journal of pediatric otorhinolaryngology (01.08.2020)
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Journal Article
Long-term clinical effect and safety of sebelipase alfa in adults with lysosomal acid lipase deficiency
Whitley, Chester B., Valayannopoulos, Vassili, Malinová, Věra, Sharma, Reena, Bourdon, Chris, Boyadjiev, Simeon A., Kessler, Bruce, Twelves, Christopher, Tripuraneni, Radhika, Eckert, Stephen, Schneider, Eugene, Quinn, Anthony G.
Published in Molecular genetics and metabolism (01.02.2014)
Published in Molecular genetics and metabolism (01.02.2014)
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Journal Article
Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe
Jurecka, Agnieszka, Zakharova, Ekaterina, Cimbalistiene, Loreta, Gusina, Nina, Malinova, Vera, Różdżyńska-Świątkowska, Agnieszka, Golda, Adam, Kulpanovich, Anna, Kaldenovna Abdilova, Gulnara, Voskoboeva, Elena, Tylki-Szymańska, Anna
Published in Pediatrics international (01.08.2014)
Published in Pediatrics international (01.08.2014)
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Journal Article
Enzyme replacement therapy for Gaucher disease in twin pregnancy
Malinová, Věra, Poupětová, Helena, Dvořáková, Lenka, Zeman, Jiří
Published in International journal of gynecology and obstetrics (01.07.2009)
Published in International journal of gynecology and obstetrics (01.07.2009)
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Journal Article
The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients
Malinová, Věra, Węgrzyn, Grzegorz, Narajczyk, Magdalena
Published in JIMD Reports - Case and Research Reports, 2012/2 (01.01.2012)
Published in JIMD Reports - Case and Research Reports, 2012/2 (01.01.2012)
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Book Chapter
Journal Article
Cataplexy and Sleep Disorders in Niemann-Pick Type C Disease
Nevsimalova, Sona, Malinova, Vera
Published in Current neurology and neuroscience reports (01.01.2015)
Published in Current neurology and neuroscience reports (01.01.2015)
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Journal Article
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients With cholesteryl ester storage disease
Balwani, Manisha, Breen, Catherine, Enns, Gregory M., Deegan, Patrick B., Honzík, Tomas, Jones, Simon, Kane, John P., Malinova, Vera, Sharma, Reena, Stock, Eveline O., Valayannopoulos, Vassili, Wraith, J. Edmond, Burg, Jennifer, Eckert, Stephen, Schneider, Eugene, Quinn, Anthony G.
Published in Hepatology (Baltimore, Md.) (01.09.2013)
Published in Hepatology (Baltimore, Md.) (01.09.2013)
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Journal Article
Effect of rapid cessation of enzyme replacement therapy: A report of 5 more cases
Jurecka, Agnieszka, Malinova, Vera, Tylki-Szymańska, Anna
Published in Molecular genetics and metabolism (01.02.2014)
Published in Molecular genetics and metabolism (01.02.2014)
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Journal Article
Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency
Valayannopoulos, Vassili, Malinova, Vera, Honzík, Tomas, Balwani, Manisha, Breen, Catherine, Deegan, Patrick B, Enns, Gregory M, Jones, Simon A, Kane, John P, Stock, Eveline O, Tripuraneni, Radhika, Eckert, Stephen, Schneider, Eugene, Hamilton, Gavin, Middleton, Michael S, Sirlin, Claude, Kessler, Bruce, Bourdon, Christopher, Boyadjiev, Simeon A, Sharma, Reena, Twelves, Chris, Whitley, Chester B, Quinn, Anthony G
Published in Journal of hepatology (01.11.2014)
Published in Journal of hepatology (01.11.2014)
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Journal Article