Lista de obras - Jolanta Sykut-Cegielska - Dominio Público Uruguay

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

artículo científico publicado en 2019

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

artículo científico publicado en 2010

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.

artículo científico publicado en 2010

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Advances in treatment of Rett syndrome

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

Autism spectrum disorders - epidemiology, symptoms, comorbidity and diagnosis

artículo científico publicado en 2014

Behavioral and intellectual functioning in patients with tyrosinemia type I.

artículo científico publicado en 2012

Biochemical and clinical characteristics of creatine deficiency syndromes.

artículo científico publicado en 2004

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

artículo científico publicado en 2021

Clinical Features of Lysosomal Acid Lipase Deficiency

artículo científico publicado en 2015

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

artículo científico publicado en 2020

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

artículo científico publicado en 2000

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Cross-border healthcare? The Polish experience.

artículo científico publicado en 2010

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

From the Editor-in-Chief

artículo científico publicado en 2020

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Multiple phenotypes in phosphoglucomutase 1 deficiency

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

Oral D-galactose supplementation in PGM1-CDG.

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 1998

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2020

Proton MR Spectroscopy in Patients with Leigh Syndrome.

artículo científico publicado en 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.

artículo científico publicado en 2005

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

artículo científico publicado en 2010

SURF1 missense mutations promote a mild Leigh phenotype.

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

artículo científico

Seventeen novel mutations that cause profound biotinidase deficiency.

artículo científico publicado en 2002

The genetic basis of classical galactosaemia in Polish patients

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2022

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2005

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

artículo científico publicado en 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.

artículo científico publicado en 2001

[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

Lista de obras de 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