Jolanta Cegielska-Sykut

17a Kasprzaka Street
Warsaw, MZ 01211, Poland

Last Updated: 09/26/2026

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Found 70 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

Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study.

Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study.

Journal: Frontiers in psychiatry

Published: March 22, 2026

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Journal: Journal of inherited metabolic disease

Published: January 16, 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

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

Journal: Journal of inherited metabolic disease

Published: June 24, 2025

2024 Polish recommendations for the management of familial hypercholesterolemia in children and adolescents.

2024 Polish recommendations for the management of familial hypercholesterolemia in children and adolescents.

Journal: Archives of medical science : AMS

Published: August 24, 2024

Breastfeeding in PKU and Other Amino Acid Metabolism Disorders-A Single Centre Experience.

Breastfeeding in PKU and Other Amino Acid Metabolism Disorders-A Single Centre Experience.

Journal: Nutrients

Published: July 10, 2024

Health and well-being of maturing adults with classic galactosemia.

Health and well-being of maturing adults with classic galactosemia.

Journal: Journal of inherited metabolic disease

Published: July 04, 2024

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Journal: Journal of inherited metabolic disease

Published: July 02, 2024

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.

Journal: Molecular genetics and metabolism

Published: February 23, 2024

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Last Updated: 09/26/2026