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Papers by Maria Kostyleva

Research paper thumbnail of Modern Approaches in Management of Children with Cystic fibrosis

Pediatric pharmacology

The problem of timely diagnosis and proper management of patients with cystic fibrosis is crucial... more The problem of timely diagnosis and proper management of patients with cystic fibrosis is crucial not only in our country, but throughout the world. Experts of the Union of Pediatricians of Russia have considered various issues of etiology, pathogenesis, epidemiology, diagnosis, and treatment of this genetic disease in a modern light. Particular attention was paid to screening methods for early diagnosis of cystic fibrosis. The principles of complex therapy were justified, including rational use of antibacterial and mucolytic drugs and enzyme replacement therapy that significantly determine the disease prognosis.

Research paper thumbnail of Long-term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency

Journal of Pediatric Gastroenterology and Nutrition, Apr 20, 2022

Research paper thumbnail of Results of a global phase 3, randomized, double-blind, placebo-controlled trial evaluating the efficacy and safety of sebelipase alfa as an enzyme replacement therapy in children and adults with lysosomal acid lipase deficiency

Molecular Genetics and Metabolism, 2015

speaking. A feeding tube was placed at age 16 years after a failed swallow study. He is non-ambul... more speaking. A feeding tube was placed at age 16 years after a failed swallow study. He is non-ambulatory. He never had a tremor but dysdiadochokinesia is evident. Myoclonic seizures were suspected in the past and he recently had a focal tonic-clonic seizure. He was diagnosed in childhood with a complex III mitochondrial defect based on electron transport chain enzyme testing in muscle. Based on similarities to his cousin, genetic testing was performed, confirming the diagnosis of NCL. Previously considered to be associated with congenital disease, it is clear that the genotype/ phenotype spectrum for mutations in CTSD is quite broad. These cases highlight the necessity of long-term registry to better describe the variable phenotype and understand the reasons for this variability.

Research paper thumbnail of Effect of sebelipase alfa on liver parameters over 96 weeks in a diverse population of children and adults with lysosomal acid lipase deficiency

Journal of Hepatology, 2018

Research paper thumbnail of Benefit of Sebelipase Alfa in Children and Adults with Lysosomal Acid Lipase Deficiency Based on Analysis of Efficacy by Baseline Alanine Aminotransferase Level

Research paper thumbnail of Safety findings from 3 trials of treatment with sebelipase alfa in children and adults with lysosomal acid lipase deficiency

Molecular Genetics and Metabolism, 2016

Research paper thumbnail of PS-196-Efficacy and safety of sebelipase alfa over 144 weeks in a diverse population of children and adults with lysosomal acid lipase deficiency

Research paper thumbnail of Modern Approaches in Management of Children with Cystic fibrosis

Pediatric pharmacology

The problem of timely diagnosis and proper management of patients with cystic fibrosis is crucial... more The problem of timely diagnosis and proper management of patients with cystic fibrosis is crucial not only in our country, but throughout the world. Experts of the Union of Pediatricians of Russia have considered various issues of etiology, pathogenesis, epidemiology, diagnosis, and treatment of this genetic disease in a modern light. Particular attention was paid to screening methods for early diagnosis of cystic fibrosis. The principles of complex therapy were justified, including rational use of antibacterial and mucolytic drugs and enzyme replacement therapy that significantly determine the disease prognosis.

Research paper thumbnail of Long-term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency

Journal of Pediatric Gastroenterology and Nutrition, Apr 20, 2022

Research paper thumbnail of Results of a global phase 3, randomized, double-blind, placebo-controlled trial evaluating the efficacy and safety of sebelipase alfa as an enzyme replacement therapy in children and adults with lysosomal acid lipase deficiency

Molecular Genetics and Metabolism, 2015

speaking. A feeding tube was placed at age 16 years after a failed swallow study. He is non-ambul... more speaking. A feeding tube was placed at age 16 years after a failed swallow study. He is non-ambulatory. He never had a tremor but dysdiadochokinesia is evident. Myoclonic seizures were suspected in the past and he recently had a focal tonic-clonic seizure. He was diagnosed in childhood with a complex III mitochondrial defect based on electron transport chain enzyme testing in muscle. Based on similarities to his cousin, genetic testing was performed, confirming the diagnosis of NCL. Previously considered to be associated with congenital disease, it is clear that the genotype/ phenotype spectrum for mutations in CTSD is quite broad. These cases highlight the necessity of long-term registry to better describe the variable phenotype and understand the reasons for this variability.

Research paper thumbnail of Effect of sebelipase alfa on liver parameters over 96 weeks in a diverse population of children and adults with lysosomal acid lipase deficiency

Journal of Hepatology, 2018

Research paper thumbnail of Benefit of Sebelipase Alfa in Children and Adults with Lysosomal Acid Lipase Deficiency Based on Analysis of Efficacy by Baseline Alanine Aminotransferase Level

Research paper thumbnail of Safety findings from 3 trials of treatment with sebelipase alfa in children and adults with lysosomal acid lipase deficiency

Molecular Genetics and Metabolism, 2016

Research paper thumbnail of PS-196-Efficacy and safety of sebelipase alfa over 144 weeks in a diverse population of children and adults with lysosomal acid lipase deficiency

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