Marina V. Kurkina

1 Moskvorechye Street
Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 12 publications

Adrenal insufficiency as part of X-linked adrenoleukodystrophy

Adrenal insufficiency as part of X-linked adrenoleukodystrophy

Journal: Problemy endokrinologii

Published: August 07, 2023

Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene

Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene

Journal: International journal of molecular sciences

Published: September 27, 2022

Mitochondrial peptide Mtln contributes to oxidative metabolism in mice.

Mitochondrial peptide Mtln contributes to oxidative metabolism in mice.

Journal: Biochimie

Published: July 28, 2022

Case Report: Next Generation Sequencing in Clinical Practice-A Real Tool for Ending the Protracted Diagnostic Odyssey.

Case Report: Next Generation Sequencing in Clinical Practice-A Real Tool for Ending the Protracted Diagnostic Odyssey.

Journal: Frontiers in cardiovascular medicine

Published: September 17, 2021

Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.

Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.

Journal: International journal of molecular sciences

Published: February 25, 2021

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder.

Journal: Molecular genetics and metabolism reports

Published: January 21, 2021

Cognitive impairment in heart failure: the role of microcirculation abnormalities

Cognitive impairment in heart failure: the role of microcirculation abnormalities

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

Published: November 18, 2020

Alkaptonuria in Russia: mutational spectrum and novel variants.

Alkaptonuria in Russia: mutational spectrum and novel variants.

Journal: European journal of medical genetics

Published: June 03, 2020

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.

Journal: Metabolic brain disease

Published: October 14, 2019

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

L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene

L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene

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

Published: June 16, 2017

Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic

Ataxia with oculomotor apraxia: clinical-genetic characteristics and DNA-diagnostic

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

Published: December 20, 2012

Showing 1-12 of 12

Last Updated: 09/26/2026