List of works - Ewa Pronicka

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

scientific article published in February 2018

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

scientific article published on January 1, 2000

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

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

scientific article

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

scientific article

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

scientific article published on 2 December 2017

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

scientific article published on 24 April 2007

Prophylaxis of vitamin D deficiency--Polish recommendation 2009

scientific article

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

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

scientific article published on 01 January 1991

Proton MR Spectroscopy in Patients with Leigh Syndrome.

scientific article published on 24 June 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

Lectin-reactive alpha-fetoprotein in tyrosinaemia type I

scientific article

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

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

scientific article published on 01 April 2010

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

scientific article published on 19 July 2018

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

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

scientific article published on April 1985

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

scientific article

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

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

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

scientific article published in January 2013

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

scientific article published on 01 January 1992

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

scientific article published on January 1, 2001

MRI of a family with leukoencephalypathy with vanishing white matter.

scientific article published on 24 May 2005

Hypocapnic hypothesis of Leigh disease

scientific article

Anthropometric characteristics of X-linked hypophosphatemia

scientific article published on 01 April 2004

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

article

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

scientific article published on 01 February 1999

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

article

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

scientific article

Pancreatic glucagon levels in infants and children with hyperinsulinemia

scientific article

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

scientific article published on 02 July 2012

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

scientific article published on 01 January 1987

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

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

scientific article published on 01 March 1991

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

scientific article published on 16 June 2015

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

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

scientific article published in January 2005

Three cases of beta-galactosidase deficiency

scientific article published on 01 July 1981

Disturbances in histidine metabolism in children with speech abnormalities

scientific article published on January 1985

Dominantly inherited isolated hyperparathyroidism: a syndromic association?

scientific article

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

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

scientific article

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

scientific article published on 01 January 2011

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

scientific article published in February 1988

Suspected pyruvate carboxylase deficiency in 4 children with Leigh disease

scientific article published on March 1986

Prophylaxis of vitamin D deficiency--Polish recommendations 2009

scientific article published in February 2010

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

scientific article published in January 2008

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

List of works by Ewa Pronicka

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

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

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

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

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

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

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

Prophylaxis of vitamin D deficiency--Polish recommendation 2009

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

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

Proton MR Spectroscopy in Patients with Leigh Syndrome.

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

Lectin-reactive alpha-fetoprotein in tyrosinaemia type I

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

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

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

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

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

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

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

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

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

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

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

MRI of a family with leukoencephalypathy with vanishing white matter.

Hypocapnic hypothesis of Leigh disease

Anthropometric characteristics of X-linked hypophosphatemia

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

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

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

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

Pancreatic glucagon levels in infants and children with hyperinsulinemia

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

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

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

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

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

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

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

Three cases of beta-galactosidase deficiency

Disturbances in histidine metabolism in children with speech abnormalities

Dominantly inherited isolated hyperparathyroidism: a syndromic association?

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

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

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

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

Suspected pyruvate carboxylase deficiency in 4 children with Leigh disease

Prophylaxis of vitamin D deficiency--Polish recommendations 2009

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

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