Jolanta Sykut-Cegielska

9PUBLICATIONS
63CO-AUTHORS
Foetal development and medicineMetabolic medicineEpigenetics (incl. genome methylation and epigenomics)Food properties (incl. characteristics and health benefits)Respiratory diseases
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Publications (9)

|Aug 26, 2026
Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

|Jun 03, 2026
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders.

|Apr 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano

|Aug 10, 2024
Breastfeeding in PKU and Other Amino Acid Metabolism Disorders-A Single Centre Experience.

Agnieszka Kowalik, Sylwia Gudej-Rosa, Marta Nogalska

|May 28, 2022
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.

Aleksandra Jezela-Stanek, Lidia Suchoń, Agnieszka Sobczyńska-Tomaszewska

|Nov 13, 2021
COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases-Organizational Challenges from the Point of View of Healthcare Providers.

Ewa Tobór-Świętek, Jolanta Sykut-Cegielska, Mirosław Bik-Multanowski

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Frequent Collaborators

2 joint publications

Aleksandra Jezela-Stanek

2 joint publications

Amanda Krzywdzińska-Rogowska

2 joint publications

Martina Huemer

2 joint publications

Ida Vanessa Schwartz