List of works - Jolanta Sykut-Cegielska

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

scientific article published on 01 January 2019

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

scientific article

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

scientific article published on 29 October 2009

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

scientific article published on 17 September 2010

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

scientific article published on 05 May 2020

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

scientific article published on 27 May 2016

Abstracts presented at the 13th International Congress of Inborn Errors of Metabolism - ICIEM 2017

scientific article

Advances in treatment of Rett syndrome

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

scientific article

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

scientific article

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

scientific article published in January 2015

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

scientific article

Autism spectrum disorders - epidemiology, symptoms, comorbidity and diagnosis

scientific article published in July 2014

Behavioral and intellectual functioning in patients with tyrosinemia type I.

scientific article published in January 2012

Biochemical and clinical characteristics of creatine deficiency syndromes.

scientific article

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

scientific article published on 22 October 2021

Clinical Features of Lysosomal Acid Lipase Deficiency

scientific article

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

scientific article published on 27 February 2020

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

scientific article published on November 2000

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

scientific article published on 01 January 2017

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

scientific article published on 3 June 2008

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

scientific article published on 11 February 2019

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

scientific article published on 08 June 2020

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

scientific article published on 20 May 2008

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

scientific article

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

scientific article

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

scientific article published on 12 December 2017

Cross-border healthcare? The Polish experience.

scientific article published on 19 October 2010

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

scientific article published on 17 May 2016

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

scientific article

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

scientific article published on 10 September 2012

Difficulties in the dietary management of a girl with two diseases requiring a special diet

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.

scientific article

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

scientific article published in November 2002

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

scientific article published on April 2011

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

scientific article published on 01 July 2007

Enzyme replacement therapy in Fabry disease in Poland: a position statement

scientific article published on 20 December 2019

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

scientific article published on 01 November 2015

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

scientific article published on 01 November 2015

Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria.

scientific article published on 9 December 2009

From the Editor-in-Chief

scientific article published on 29 July 2020

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

scientific article published on 01 January 2007

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

scientific article published on 5 April 2012

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

scientific article published on January 2015

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

scientific article published on 26 June 2008

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations

scientific article published on 21 November 2008

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

scientific article published on 21 December 2015

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

scientific article published on 10 May 2018

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

scientific article published on 01 January 2019

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

scientific article published on 18 July 2020

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

scientific article published on 30 January 2013

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

scientific article

Long-term clinical effects of enzyme replacement therapy in MPS II

scientific article published in July 2017

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

scientific article published on 08 December 2009

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

scientific article published on 01 January 2018

Multiple phenotypes in phosphoglucomutase 1 deficiency

scientific article

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

scientific article published on 4 May 2011

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

scientific article published on 28 July 2013

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

scientific article published on 18 September 2013

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.

scientific article published on 19 November 2008

Oral D-galactose supplementation in PGM1-CDG.

scientific article published on 15 June 2017

Orphanet Polska – w europejskiej sieci jako szansa oceny sytuacji chorób rzadkich na przykładzie wrodzonych wad metabolizmu u dzieci

scientific article published in November 2008

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

scientific article published in May 1998

Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II

scientific article published on 18 December 2015

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

scientific article

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

scientific article published on 13 December 2014

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

scientific article

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOSC2 Gene

scientific article published on 14 October 2020

Proton MR Spectroscopy in Patients with Leigh Syndrome.

scientific article published on 24 June 2011

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

scientific article published on 13 July 2020

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

scientific article published on 2 December 2005

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

SURF1 missense mutations promote a mild Leigh phenotype.

scientific article published on August 2009

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

scientific article published on 7 January 2009

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

scientific article published on April 2012

Seventeen novel mutations that cause profound biotinidase deficiency.

scientific article published in September 2002

The genetic basis of classical galactosaemia in Polish patients

scientific article published on 24 May 2021

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

scientific article published on 25 September 2020

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

scientific article

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

scientific article published on 20 May 2022

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

scientific article published on 15 April 2015

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

scientific article published on 15 April 2015

The role of genetic factors and pre- and perinatal influences in the etiology of autism spectrum disorders - indications for genetic referral

scientific article

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

scientific article published on 01 January 2020

Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency.

scientific article published in January 2005

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

scientific article published on 20 November 2010

WHY THE RARE DISEASES BECOME TO BE A CHALLENGE FOR MEDICINE OF TODAY?

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

scientific article

[Compliance of the diet restricted with leucine, isoleucine and valine in maple syrup urine disease (MSUD) children]

scientific article published on 01 January 2007

[Maple Syrup Urine Disease in a newborn infant]

scientific article published on 01 January 2007

List of works by Jolanta Sykut-Cegielska

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

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

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

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

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

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

Abstracts presented at the 13th International Congress of Inborn Errors of Metabolism - ICIEM 2017

Advances in treatment of Rett syndrome

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

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

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

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

Autism spectrum disorders - epidemiology, symptoms, comorbidity and diagnosis

Behavioral and intellectual functioning in patients with tyrosinemia type I.

Biochemical and clinical characteristics of creatine deficiency syndromes.

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

Clinical Features of Lysosomal Acid Lipase Deficiency

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

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

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

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

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

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

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

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

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

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

Cross-border healthcare? The Polish experience.

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

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

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

Difficulties in the dietary management of a girl with two diseases requiring a special diet

Dihydropyrimidine dehydrogenase deficiency presenting with psychomotor retardation in the first Polish patient.

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

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

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

Enzyme replacement therapy in Fabry disease in Poland: a position statement

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

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

Evaluation of somatic development in adult patients with previously undiagnosed and/or untreated phenylketonuria.

From the Editor-in-Chief

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

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

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

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

Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations

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

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

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

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

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

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

Long-term clinical effects of enzyme replacement therapy in MPS II

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

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

Multiple phenotypes in phosphoglucomutase 1 deficiency

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

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

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

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.

Oral D-galactose supplementation in PGM1-CDG.

Orphanet Polska – w europejskiej sieci jako szansa oceny sytuacji chorób rzadkich na przykładzie wrodzonych wad metabolizmu u dzieci

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

Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II

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

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

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

Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOSC2 Gene

Proton MR Spectroscopy in Patients with Leigh Syndrome.

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

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

SURF1 missense mutations promote a mild Leigh phenotype.

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

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Seventeen novel mutations that cause profound biotinidase deficiency.

The genetic basis of classical galactosaemia in Polish patients

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

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