List of works - Ewa Pronicka

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

scientific article

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

scientific article

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

scientific article

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

scientific journal article

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

scientific article

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

scientific article published in May 1998

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

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

scientific article published on 2 December 2005

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evol

scientific article published in February 1997

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

scientific article published on 2 December 2009

Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance

scientific article published on 01 November 1996

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

scientific article

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

scientific article published on 3 June 2008

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

scientific article published on 16 February 2007

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

scientific journal article

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

scientific article published on 4 February 2016

Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders

scientific article published on 10 March 2010

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

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

article

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

scientific article published on 29 June 2016

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations

scientific article published on 01 January 2010

Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations

scientific article published on 21 July 2004

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations

scientific article published on 20 March 2012

Seventeen novel mutations that cause profound biotinidase deficiency.

scientific article published in September 2002

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients

scientific article published on September 1995

High frequency of missense mutations in glycogen storage disease type VI

scientific article

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

scientific article published on 3 May 2017

SURF1 missense mutations promote a mild Leigh phenotype.

scientific article published on August 2009

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

scientific article published on 10 January 2006

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

scientific article published on 30 January 2013

Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

scientific article published in January 2011

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

scientific article published on March 2007

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

scientific article published on 15 December 2013

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

scientific article

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

scientific article published in November 2002

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

scientific article published on 2 February 2015

Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia

scientific article published on 01 April 1996

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

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

scientific article published on 3 January 2018

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

scientific article published on 26 June 2008

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

scientific article

Persistent hypercalciuria and elevated 25-hydroxyvitamin D3 in children with infantile hypercalcaemia

scientific article published on 01 February 1997

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

scientific article

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates.

scientific article published in December 2001

Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC)

scientific article published on 01 January 1996

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

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

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

scientific article

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

scientific article

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

scientific article published on 21 November 2008

List of works by Ewa Pronicka

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

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

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

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

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evol

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals

Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

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

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Oxidative stress-dependent p66Shc phosphorylation in skin fibroblasts of children with mitochondrial disorders

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

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations

Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations

Seventeen novel mutations that cause profound biotinidase deficiency.

The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients

High frequency of missense mutations in glycogen storage disease type VI

Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

SURF1 missense mutations promote a mild Leigh phenotype.

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

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

Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

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

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia

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

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

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

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

Persistent hypercalciuria and elevated 25-hydroxyvitamin D3 in children with infantile hypercalcaemia

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates.

Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC)

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

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

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

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

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