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List of works by Ewa Pronicka

"Drop attacks" as first clinical symptoms in a child carrying MTTK m.8344A>G mutation.

scientific article published in January 2013

13C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria

scientific article

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

article

A case of Menkes disease cell culture examination and elastic cartilage electronmicroscopy.

scientific article

A case of organic aciduria--suspected 3-hydroxy-3-methylglutaric aciduria

scientific article published on October 1, 1991

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

scientific article

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

scientific article

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

scientific article

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

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

scientific article

Abolished phosphaturic response to parathormone in adult patients with Fahr disease and its restoration after propranolol administration

scientific article

Acid-base equilibrium in the course of treatment of rheumatic fever in children

scientific article published on April 1, 1970

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

scientific article published on 20 March 2012

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

scientific article

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

scientific article published on 10 January 2006

Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation

scientific article

Anthropometric characteristics of X-linked hypophosphatemia

scientific article published on 01 April 2004

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

scientific journal article

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

scientific article published on 29 June 2016

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

Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

scientific article published in January 2016

Biochemical and DNA markers of X-linked hypophosphataemic rickets: a study of sporadic cases

scientific article published on 01 January 1992

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

scientific article

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

scientific article published in 1996

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

scientific article published on 01 April 1996

Carpal tunnel syndrome in children with mucopolysaccharidoses: needs for surgical tendons and median nerve release

scientific article published in February 1988

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

scientific article published on 16 February 2007

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

scientific article

Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR gene

scientific article published in January 2008

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

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

scientific article published on 3 January 2018

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

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

scientific article published on 3 June 2008

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy

scientific article published on 25 September 2017

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

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

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

scientific article published on 21 July 2004

Decreased affinity of phosphorylase a for glucose‐1‐phosphate in polymorphonuclear leukocytes of a patient with glycogenosis type VI

scientific article published in June 1986

Determination of partial carbon dioxide pressure in the blood in the assessment of damage of the central nervous system in fever-induced seizures in children

scientific article

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

scientific article published on 18 April 2016

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

scientific article

Disturbances in histidine metabolism in children with speech abnormalities

scientific article published on January 1985

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

scientific article published in November 2002

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

Dominantly inherited isolated hyperparathyroidism: a syndromic association?

scientific article

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

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

scientific article published on 21 December 2020

Extremely low serum pyridoxal 5'-phosphate in children with familial hypophosphatemic rickets

scientific article published on 01 March 1991

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

scientific article published on 2 February 2015

False positive results of mitochondrial DNA depletion/deletion due to single nucleotide substitutions causing appearance of additional PvuII restriction sites

scientific article published on 01 June 2007

Familial hypomagnesaemia with secondary hypocalcaemia--autosomal or X-linked inheritance?

scientific article published on 01 January 1991

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

scientific article

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

Glycogenosis type VI and VIa--biochemical and clinical documentation

scientific article

High frequency of missense mutations in glycogen storage disease type VI

scientific article

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

scientific article published on 26 June 2008

Hypocapnic hypothesis of Leigh disease

scientific article

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

scientific article published on 21 November 2008

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria

scientific article

Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

scientific article published on 21 January 2017

Idiopathic hypercalcemia as a syndrome of hypersensitivity to vitamin D3 in 19 infants

scientific article published on April 1985

Idiopathic juvenile osteoporosis with the symptoms suggesting nervous system damage

scientific article

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

Increased serum level of 1,25-dihydroxyvitamin D3 after parathyroid hormone in the normocalcemic phase of idiopathic hypercalcemia

scientific article published on 01 June 1988

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

Iron metabolism in experimental rickets. I. Intestinal absorption of iron in rat rickets

scientific article published on June 1, 1975

Lectin-reactive alpha-fetoprotein in tyrosinaemia type I

scientific article

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

scientific article published on 30 January 2013

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

scientific article

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

scientific article

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

scientific article published in July 2017

Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations

scientific article published on 25 October 2020

MELAS--mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome--two cases confirmed by biochemical and molecular investigations. Differential diagnosis of stroke causes

scientific article

MRI of a family with leukoencephalypathy with vanishing white matter.

scientific article published on 24 May 2005

Meconium peritonitis: a spontaneous cure

scientific article published in September 1970

Medium-chain fatty acid triglycerides (MCT) in the treatment of chronic malabsorption

scientific article published on January 1, 1979

Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background

scientific article published in January 2008

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

article

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

scientific article published on 01 January 2010

Molecular investigations of mitochondrial deletions: evaluating the usefulness of different genetic tests

scientific article published on 02 July 2012

Molecular studies of Polish patients with respiratory chain complex I deficiency

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

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

scientific article

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

scientific journal article

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

scientific article published in February 2018

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

scientific article

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

scientific article published on 2 October 2015

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

Observations on the shifts of the acid-base equilibrium in rachitic tetany.

scientific article published in January 1972

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

scientific article published in November 2008

Our personal observations on acid-base balance shifts in rickets tetany

scientific article published on May 1, 1971

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

scientific article published on 10 March 2010

Pancreatic glucagon levels in infants and children with hyperinsulinemia

scientific article

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

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

scientific article published on 01 February 1997

Phototherapy in the prevention of hyperbilirubinemia in premature infants

scientific article published on February 1, 1974

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

Primary hyperparathyroidism in infants. Diagnostic and therapeutic difficulties

scientific article

Principles of diagnosis and the clinical course of 8 cases of Gaucher's disease (beta-glucocerebrosidase deficiency)

scientific article published in January 1987

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

scientific article published on 2 December 2017

Prophylaxis of vitamin D deficiency--Polish recommendations 2009

scientific article published in February 2010

Proton MR Spectroscopy in Patients with Leigh Syndrome.

scientific article published on 24 June 2011

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

scientific article published on 2 December 2005

SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome

scientific article published on January 1, 2001

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

Serum 25-hydroxyvitamin D3 levels in 3- and 6-month-old Warsaw infants receiving daily prophylactically vitamin D3 "Polfa"

scientific article published in April 1985

Seventeen novel mutations that cause profound biotinidase deficiency.

scientific article published in September 2002

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

Suspected pyruvate carboxylase deficiency in 4 children with Leigh disease

scientific article published on March 1986

The behavior of hepatic phosphorylase b kinase, phosphorylase a and b after administration of glucagon to patients with glycogen storage disease type VIa.

scientific article published on August 1986

The cystathionine ?-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype

scientific article published on 01 October 2004

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

scientific article published on 10 November 2018

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

scientific article published on September 1995

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

scientific article

The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

The surgical approach to hyperinsulinism and hypoglycemia in children

scientific article published in April 1990

Three cases of beta-galactosidase deficiency

scientific article published on 01 July 1981

Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients

scientific article published on 01 February 1999

Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls

scientific article published on 24 April 2007

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

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

scientific article published in January 2005

Tubular function of kidney after galactose loading in two patients with glycogen storage disease type XL

scientific article published on 01 January 1987

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

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene

scientific article published on January 1, 2000

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.

scientific article published on 16 June 2015

[Clinical and diagnostic aspects of Barth syndrome (X-linked cardiomyopathy)]

scientific article published on 01 January 2011

[Polish recommendations related to prophylaxis of vitamin D deficiency - A.D. 2009]

scientific article published on 01 January 2009

[Prophylaxis of vitamin D deficiency--Polish recommendation 2009].

scientific article

[Recommendations of prophylaxis of vitamin D deficiency in Poland (2009)]

scientific article published on 01 April 2010

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