Natalia L. Pechatnikova

4th Dobryninsky Lane, 1/9
Moscow, MOW 119049, Russian Federation

Last Updated: 09/26/2026

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Found 9 publications

Onasemnogene abeparvovec gene replacement therapy for spinal muscular atrophy in children: a Moscow experience

Onasemnogene abeparvovec gene replacement therapy for spinal muscular atrophy in children: a Moscow experience

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: November 24, 2025

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Journal: International journal of neonatal screening

Published: July 29, 2023

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Journal: Hepatology (Baltimore, Md.)

Published: March 17, 2023

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.

Journal: International journal of molecular sciences

Published: December 05, 2022

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.

Journal: Molecular genetics and metabolism reports

Published: April 03, 2022

Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.

Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.

Journal: Mitochondrion

Published: July 14, 2020

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.

Journal: Genes

Published: June 18, 2020

A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.

A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.

Journal: Mitochondrion

Published: December 03, 2018

Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.

Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.

Journal: Journal of inherited metabolic disease

Published: August 05, 2018

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Last Updated: 09/26/2026