V. Malinová

发表

Acetyl-dl-leucine in Niemann-Pick type C

M. Strupp, E. Mengel, Y. Amraoui, 2015, Neurology.

Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency.

C. Sirlin, G. Hamilton, G. Enns, 2014, Journal of hepatology.

Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients With cholesteryl ester storage disease

G. Enns, J. Kane, M. Balwani, 2013, Hepatology.

Cataplexy and Sleep Disorders in Niemann-Pick Type C Disease

S. Nevsimalova, V. Malinová, S. Nevšímalová, 2014, Current Neurology and Neuroscience Reports.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

M. Tarnopolsky, Y. Chien, J. Charrow, 2021, The Lancet Neurology.

The female Gaucher patient: the impact of enzyme replacement therapy around key reproductive events (menstruation, pregnancy and menopause).

P. Kaplan, N. Belmatoug, D. Hughes, 2009, Blood cells, molecules & diseases.

Serum Immunoglobulin Free Light Chains in Severe Forms of Atopic Dermatitis

A. Šedivá, V. Malinová, J. Kayserová, 2010, Scandinavian journal of immunology.

Sebelipase alfa for lysosomal acid lipase deficiency: 5‐year treatment experience from a phase 2 open‐label extension study

J. Kane, M. Balwani, C. Whitley, 2020, Liver international : official journal of the International Association for the Study of the Liver.

Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process

M. Elleder, H. Hulkova, H. Poupětová, 2009, Journal of Inherited Metabolic Disease.

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

A. Lugowska, J. Sikora, H. Jahnová, 2017, Analytical biochemistry.

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective chart review

M. Pineda, S. Kolb, P. Karimzadeh, 2019, Orphanet Journal of Rare Diseases.

Effect of rapid cessation of enzyme replacement therapy: a report of 5 more cases.

A. Tylki-Szymańska, A. Jurecka, V. Malinová, 2014, Molecular genetics and metabolism.

Clinical Features of Lysosomal Acid Lipase Deficiency

G. Enns, B. Burton, S. Eckert, 2015, Journal of pediatric gastroenterology and nutrition.

Effect of Sebelipase Alfa After 90 Weeks in Adults with Lysosomal Acid Lipase Deficiency

S. Eckert, S. Boyadjiev, C. Whitley, 2014 .

Long-term clinical effect and safety of sebelipase alfa in adults with lysosomal acid lipase deficiency

C. Twelves, S. Eckert, E. Schneider, 2014 .

Lysosomal acid lipase deficiency in differential diagnosis of familial hypercholesterolemia

Z. Urbanová, V. Malinová, lyzosomální kyselé, 2019 .

Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis.

J. Zeman, P. Ješina, V. Malinová, 2020 .

Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe

A. Tylki-Szymańska, N. Gusina, E. Zakharova, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature

A. Tylki-Szymańska, E. Zakharova, A. Jurecka, 2013, Clinical Rheumatology.

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

M. Pineda, S. Kolb, P. Karimzadeh, 2019, Orphanet Journal of Rare Diseases.

A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C

M. Strupp, S. Bardins, M. Walterfang, 2021, European journal of neurology.

Ocular motor biomarkers in Niemann-Pick disease type C: A prospective cross-sectional multicontinental study in 72 patients

M. Strupp, S. Bardins, M. Walterfang, 2020, medRxiv.

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings

R. Strobl, R. Schiffmann, M. Patterson, 2018, Front. Neurol..

The late-onset form of Pompe disease

V. Malinová, Radka Mišurová, 2021, Neurologie pro praxi.

A prospective study in children with a severe form of atopic dermatitis: clinical outcome in relation to cytokine gene polymorphisms.

A. Šedivá, S. Katina, I. Stříž, 2012, Journal of investigational allergology & clinical immunology.

1H MR spectroscopy as a diagnostic tool for cerebral creatine deficiency

F. Jiru, J. Zeman, M. Dezortova, 2008, Magnetic Resonance Materials in Physics, Biology and Medicine.

Enzyme replacement therapy for Gaucher disease in twin pregnancy

J. Zeman, L. Dvořáková, H. Poupětová, 2009, International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics.

The use of elevated doses of genistein-rich soy extract in the gene expression-targeted isoflavone therapy for Sanfilippo disease patients.

G. Węgrzyn, M. Narajczyk, V. Malinová, 2012, JIMD reports.

Initial Human Experience with SBC-102, a Recombinant Enzyme Replacement Therapy in Adults with Lysosomal Acid Lipase Deficiency

G. Enns, M. Balwani, E. Schneider, 2012 .

The use of elevated doses of genistein-rich soy extract in the gene expression-targeted isoflavone therapy for Sanfilippo disease patients.

G. Węgrzyn, M. Narajczyk, V. Malinová, 2012, JIMD reports.

Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients

L. Dvořáková, H. Poupětová, V. Malinová, 2023, International journal of molecular sciences.