J. Sykut-Cegielska

发表

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2012, Human molecular genetics.

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

R. Płoski, M. Rydzanicz, R. Śmigiel, 2020, Journal of clinical medicine.

A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries

M. Czech, J. Sykut-Cegielska, M. Hołownia-Voloskova, 2020, Frontiers in Public Health.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

H. Freeze, F. Tort, Christina Lam, 2020, Journal of inherited metabolic disease.

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

F. Scaglia, K. Õunap, M. He, 2020, Genetics in Medicine.

Biochemical and clinical characteristics of creatine deficiency syndromes.

S. Stöckler‐Ipsiroglu, S. Mercimek-Mahmutoglu, J. Sykut-Cegielska, 2004, Acta biochimica Polonica.

Gene identiﬁcation in the congenital disorders of glycosylation type I by whole-exome sequencing

A. Hoischen, J. Veltman, R. Rodenburg, 2012 .

Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report

M. Bekiesińska-Figatowska, J. Sykut-Cegielska, J. Taybert, 2021, BMC Pediatrics.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase‐I deficiency

J. Vissing, C. Thiel, N. Voermans, 2018, Translational research : the journal of laboratory and clinical medicine.

Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome

K. Kokoszyńska, M. Pronicki, M. Wieckowski, 2013, Journal of Inherited Metabolic Disease.

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

F. Eichler, D. Zafeiriou, B. Echenne, 2012, Annals of neurology.

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

H. Freeze, S. Houliston, H. Bokhoven, 2010, Cell.

Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps

R. Wevers, E. Morava, D. Lefeber, 2008, Journal of Inherited Metabolic Disease.

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

B. Andresen, N. Gregersen, J. Wierzba, 2010, Journal of Inherited Metabolic Disease.

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

B. Andresen, M. Pronicki, E. Jabłońska, 2011, Journal of Inherited Metabolic Disease.

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.

M. Baumgartner, D. Rizopoulos, Y. Chien, 2019, Molecular genetics and metabolism.

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.

E. Jamroz, M. Pronicki, J. Wierzba, 2013, Mitochondrion.

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

M. Kabra, S. Grünert, J. Sass, 2020, Molecular Genetics and Metabolism.

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

M. Patterson, H. Plotkin, Christina Lam, 2021, Molecular genetics and metabolism.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

M. Tuchman, M. Baumgartner, S. Waisbren, 2020, Scientific Reports.

Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency

K. Vesela, M. Pronicki, M. Tesařová, 2006, Pediatric Research.

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.

M. Pronicki, D. Piekutowska-Abramczuk, J. Sykut-Cegielska, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

H. Freeze, M. Patterson, Christina Lam, 2019, Journal of inherited metabolic disease.

Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia

R. Płoski, M. Adamowicz, E. Pronicka, 2007, Pediatric Research.

COVID-19 Pandemic and Patients with Rare Inherited Metabolic Disorders and Rare Autoinflammatory Diseases—Organizational Challenges from the Point of View of Healthcare Providers

B. Kieć-Wilk, M. Bik-Multanowski, M. Pac, 2021, Journal of clinical medicine.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Y. Wada, J. Veltman, C. Stanley, 2014, The New England journal of medicine.

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

D. Conrad, C. Stanley, S. Wortmann, 2016, The Journal of pediatrics.

An Investigation of the Neurological and Neuropsychiatric Disturbances in Adults with Undiagnosed and/or Untreated Phenylketonuria in Poland

A. Mazur, A. Kwolek, J. Sykut-Cegielska, 2011 .

Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients

B. D. de Vries, H. Freeze, G. Mancini, 2019, Journal of inherited metabolic disease.

X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation.

E. Pronicka, J. Sykut-Cegielska, D. Jurkiewicz, 2001, Journal of applied genetics.

Seventeen novel mutations that cause profound biotinidase deficiency.

T. Suormala, E. R. Baumgartner, C. Pérez-Cerdá, 2002, Molecular genetics and metabolism.

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene

E. Mayatepek, A. Schulze, B. Wolf, 1998, Human Genetics.

Blue Native Electrophoresis: an additional useful tool to study deficiencies of mitochondrial respiratory chain complexes

M. Pronicki, M. Wieckowski, J. Duszyński, 2006 .

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

M. Baumgartner, E. Rodrigues, C. Ortez, 2015, Journal of Inherited Metabolic Disease.

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

S. Kmoch, A. Tylki-Szymańska, E. Pronicka, 2008, Molecular genetics and metabolism.

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene

G. Węgrzyn, M. Pronicki, K. Kotulska, 2011, Medical science monitor : international medical journal of experimental and clinical research.

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

E. Seemanová, K. Chrzanowska, K. Sperling, 2000, European Journal of Human Genetics.

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

M. Verbeek, R. Wevers, M. Bertoldi, 2022, Cellular and Molecular Life Sciences.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

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

A. Jezela-Stanek, A. Sobczyńska-Tomaszewska, J. Sykut-Cegielska, 2022, Genes.

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

P. Clayton, G. Schwarz, D. Martinelli, 2022, Redox biology.

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

H. Brunner, E. Lemyre, R. Wevers, 2008, European Journal of Human Genetics.

Secondary respiratory chain dysfunction mimicking mitochondrial disorders - the role of skeletal muscle pathology in multidisciplinary diagnostic workout

M. Pronicki, H. Mierzewska, J. Sykut-Cegielska, 2007 .

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

G. Węgrzyn, M. Pronicki, P. Socha, 2010, Journal of Applied Genetics.

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

D. Zafeiriou, M. Verbeek, H. Goez, 2021, Nature Communications.

Medical care of patients with disorders of aromatic amino acid metabolism: a report based on the Polish National Health Fund data records.

W. Grzeszczak, E. Franek, B. Więckowska, 2018, Pediatric endocrinology, diabetes, and metabolism.

Impact of age at onset and newborn screening on outcome in organic acidurias

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

Impact of age at onset and newborn screening on outcome in organic acidurias

M. Baumgartner, J. Zeman, S. Kölker, 2016, Journal of Inherited Metabolic Disease.

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

J. Zeman, M. Couce, A. Chakrapani, 2016, Journal of Inherited Metabolic Disease.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

Assessment of respiratory chain function in cultured fibroblasts using cytochemistry, immunocytochemistry and SDS-PAGE

M. Pronicki, M. Wieckowski, D. Piekutowska-Abramczuk, 2008 .

Muscle histopathology in children with Leigh syndrome clinical phenotype and mutations in SURF1 gene

M. Pronicki, D. Piekutowska-Abramczuk, J. Sykut-Cegielska, 2003 .

Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review.

Paweł Zapolnik, A. Pyrkosz, J. Sykut-Cegielska, 2020, Acta biochimica Polonica.

The genetic basis of classical galactosaemia in Polish patients

A. Jezela-Stanek, A. Rygiel, J. Sykut-Cegielska, 2021, Orphanet Journal of Rare Diseases.

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

J. van Reeuwijk, L. Hoefsloot, H. van Bokhoven, 2010, Brain : a journal of neurology.

Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency

E. Pronicka, J. Sykut-Cegielska, J. Taybert, 2005, Journal of Inherited Metabolic Disease.

Age and Gender-Related Changes in Biogenic Amine Metabolites in Cerebrospinal Fluid in Children.

K. Kotulska, S. Jóźwiak, U. Demkow, 2016, Advances in experimental medicine and biology.

Clinical Features of Lysosomal Acid Lipase Deficiency

G. Enns, B. Burton, S. Eckert, 2015, Journal of pediatric gastroenterology and nutrition.

Treatment of classic phenylketonuria in Poland in the years 2009-2015 based on the database of the Polish National Health Fund.

E. Franek, B. Więckowska, J. Sykut-Cegielska, 2020, Pediatric Endocrinology Diabetes and Metabolism.

Alkaptonuria--first inborn error of metabolism known for a century and new treatment option--preliminary report.

J. Sykut-Cegielska, 2015, Developmental period medicine.

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

Mitsuhiro Kato, M. Kurian, Á. García-Cazorla, 2020, Journal of inherited metabolic disease.

Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

E. Hoppenreijs, R. Wevers, E. Morava, 2008, Molecular genetics and metabolism.

Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations

I. Mihalek, R. Wevers, Z. H. Zhang, 2012, Pediatrics.

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I

J. Cruysberg, R. Wevers, E. Morava, 2008, British Journal of Ophthalmology.

[Autism spectrum disorders - epidemiology, symptoms, comorbidity and diagnosis].

E. Pisula, F. Rybakowski, A. Słopień, 2014, Psychiatria polska.

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives

J. Sykut-Cegielska, B. Tumienė, Rūta Praninskienė, 2022, Journal of multidisciplinary healthcare.

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

M. Pronicki, E. Pronicka, D. Piekutowska-Abramczuk, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Enzyme replacement therapy in Fabry disease in Poland - position statement.

P. Ponikowski, K. Pawlaczyk, M. Nowicki, 2019, Polish archives of internal medicine.

E. Holme, M. Pronicki, M. Houshmand, 2010 .

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

J. Elson, R. Wevers, S. Wortmann, 2011, Journal of Inherited Metabolic Disease.

SURF1 missense mutations promote a mild Leigh phenotype

M. Pronicki, J. Zeman, E. Pronicka, 2009, Clinical genetics.

G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child.

M. Pronicki, E. Bartnik, D. Piekutowska-Abramczuk, 2007, Folia neuropathologica.

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

W. Grajkowska, M. Pronicki, T. Kmieć, 2007, Journal of Clinical Pathology.

Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations

Z. Krūmiņa, A. Tylki-Szymańska, E. Pronicka, 2008, Journal of Inherited Metabolic Disease.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

M. Baumgartner, R. Lachmann, E. Rodrigues, 2015, Journal of Inherited Metabolic Disease.

An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study

D. Zafeiriou, J. Celli, J. D. den Dunnen, 2010, Human mutation.

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

E. Christensen, M. S. van der Knaap, D. Sie, 2013, Journal of Medical Genetics.

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

A. Jezela-Stanek, Artur Góra, J. Sykut-Cegielska, 2020, Diagnostics.

Proton MR Spectroscopy in Patients with Leigh Syndrome

E. Pronicka, K. Nowak, E. Jurkiewicz, 2011, The neuroradiology journal.

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

M. Pronicki, E. Pronicka, E. Bartnik, 2002, Medical science monitor : international medical journal of experimental and clinical research.

Congenital hyperinsulinism in Polish patients--how can we optimize clinical management?

M. Borowiec, W. Młynarski, E. Barg, 2015, Endokrynologia Polska.

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria

A. Macdonald, J. Sykut-Cegielska, A. Kowalik, 2021, Medicina.

Difficulties in The Dietary Management of a Girl with Two Diseases Requiring a Special Diet

J. Sykut-Cegielska, D. Gajewska, A. Kowalik, 2018, Developmental period medicine.

Behavioral and intellectual functioning in patients with tyrosinemia type I.

M. Biernacki, J. Sykut-Cegielska, A. Jakubowska-Winecka, 2012, Pediatric endocrinology, diabetes, and metabolism.

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

U. Demkow, M. Nowacka, J. Sykut-Cegielska, 2015, Respiratory Physiology & Neurobiology.

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy

R. Płoski, M. Pronicki, M. Wieckowski, 2014, Clinical genetics.

Genetic analysis in inherited metabolic disorders--from diagnosis to treatment. Own experience, current state of knowledge and perspectives.

M. Gos, J. Sykut-Cegielska, J. Bal, 2015, Developmental period medicine.

Clinical course and cardiovascular outcomes in patients with the long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

J. Wierzba, D. Kozłowski, J. Sykut-Cegielska, 2017, Cardiology journal.

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

Y. Chien, W. Hwu, N. Blau, 2023, Molecular genetics and metabolism.

Measurement of functional independence level and falls-risk in individuals with undiagnosed phenylketonuria.

A. Mazur, A. Kwolek, J. Sykut-Cegielska, 2009, Acta biochimica Polonica.

Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up

B. Thöny, C. Jakobs, D. Rokicki, 2009, Journal of Inherited Metabolic Disease.