Jolanta Sykut‐Cegielska
Mother and Child Foundation(GB)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Amino Acid Enzymes and Metabolism, Genomics and Rare Diseases, Neonatal Health and Biochemistry
Most-Cited Works
- → SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder(2010)307 cited
- → Multiple Phenotypes in Phosphoglucomutase 1 Deficiency(2014)284 cited
- → The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation(2015)246 cited
- → The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype(2015)233 cited
- → Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing(2012)170 cited
- → Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy(2011)154 cited
- → Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations(2000)152 cited
- → ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation(2016)150 cited
- → International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up(2019)143 cited
- → An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study(2010)120 cited