Katarzyna Kusmierska

Warsaw, MZ, Poland

Last Updated: 09/26/2026

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Found 13 publications

Molecular heterogeneity in AADC deficiency: Variant-dependent effects on AADC activity.

Molecular heterogeneity in AADC deficiency: Variant-dependent effects on AADC activity.

Journal: Molecular genetics and metabolism

Published: April 15, 2026

A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.

A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.

Journal: Molecular genetics and metabolism

Published: November 19, 2025

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Journal: Molecular genetics and metabolism

Published: July 15, 2023

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Journal: Molecular genetics and metabolism

Published: March 14, 2023

Dietary Intake and Circulating Amino Acid Concentrations in Relation with Bone Metabolism Markers in Children Following Vegetarian and Omnivorous Diets.

Dietary Intake and Circulating Amino Acid Concentrations in Relation with Bone Metabolism Markers in Children Following Vegetarian and Omnivorous Diets.

Journal: Nutrients

Published: February 15, 2023

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.

Journal: Genes

Published: April 10, 2022

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.

Journal: Cellular and molecular life sciences : CMLS

Published: February 25, 2022

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene.

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene.

Journal: Diagnostics (Basel, Switzerland)

Published: September 07, 2020

Serum amino acid profile in patients with Parkinson's disease.

Serum amino acid profile in patients with Parkinson's disease.

Journal: PloS one

Published: July 07, 2017

Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach.

Inherited disorders of brain neurotransmitters: pathogenesis and diagnostic approach.

Journal: Advances in experimental medicine and biology

Published: October 15, 2014

Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines.

Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines.

Journal: Respiratory physiology & neurobiology

Published: October 02, 2014

The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

The analysis of genetic aberrations in children with inherited neurometabolic and neurodevelopmental disorders.

Journal: BioMed research international

Published: February 28, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026