Jolanta Sykut‐Cegielska

Mother and Child Foundation — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

37h-index4.6kcitations133works3.32yr avg
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Research Topics

Metabolism and Genetic Disorders(54), Mitochondrial Function and Pathology(24), Amino Acid Enzymes and Metabolism(23), Genomics and Rare Diseases(16), Neonatal Health and Biochemistry(16)

Publications133 total

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
Molecular Genetics and Metabolism·2026Open Access
The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency
Brain·2025Open Access
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
SSRN Electronic Journal·2025Open Access
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations
Journal of Inherited Metabolic Disease·2024· 6 citedOpen Access
2024 Polish Recommendations for the Management of Familial Hypercholesterolemia in Children and Adolescents.
Archives of Medical Science·2024· 6 citedOpen Access
Health and well‐being of maturing adults with classic galactosemia
Journal of Inherited Metabolic Disease·2024· 5 citedOpen Access
Breastfeeding in PKU and Other Amino Acid Metabolism Disorders—A Single Centre Experience
Nutrients·2024· 2 citedOpen Access
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
Molecular Genetics and Metabolism·2024· 6 citedOpen Access
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG
Human Mutation·2024· 8 citedOpen Access
Pediatria. Tom 1
2024
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine·2023· 9 citedOpen Access
Przesiewowe badania w endokrynologii
2023Open Access
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Molecular Genetics and Metabolism·2023· 2 cited
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Molecular Genetics and Metabolism·2023· 18 citedOpen Access
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
Redox Biology·2022· 33 citedOpen Access
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role
Cellular and Molecular Life Sciences·2022· 11 citedOpen Access
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme
Genes·2022· 8 citedOpen Access
The Novel P330L Pathogenic Variant of Aromatic Amino Acid Decarboxylase Maps on the Catalytic Flexible Loop Underlying its Crucial Role
Research Square (Research Square)·2022Open Access
COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers
Journal of Clinical Medicine·2021· 13 citedOpen Access
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Nature Communications·2021· 37 citedOpen Access
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Frequent Co-authors

Éva Morava(17), Dirk J. Lefeber(15), Ewa Pronicka(13), Ron A. Wevers(11), Maciej Pronicki(10), Dorota Piekutowska‐Abramczuk(9), Maciej Adamowicz(8), Tomáš Honzík(8), Stephanie Grünewald(7), Jaak Jaeken(6), Vassili Valayannopoulos(6), Allan M. Lund(6), Wanda Gradowska(6), Hudson H. Freeze(5), Kimiyo Raymond(5), Karin Huijben(5), Linda De Meırleır(5), Stefan Kölker(5), Alberto Burlina(5), Frits A. Wijburg(5)