E. Pronicka

发表

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

G. Matthijs, R. Wevers, P. Briones, 2007, Molecular genetics and metabolism.

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

Dariusz M Plewczynski, R. Płoski, D. Plewczyński, 2018, Journal of Human Genetics.

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.

S. Lindstedt, M. Adamowicz, E. Pronicka, 2003, Molecular genetics and metabolism.

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

J. Schuurs-Hoeijmakers, J. Veltman, W. Kloosterman, 2012, Nature Genetics.

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

M. Pronicki, J. Duszyński, E. Pronicka, 2001, Biochemical and biophysical research communications.

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

Z. Kułaga, M. Litwin, Łukasz Obrycki, 2020, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

M. Litwin, Łukasz Obrycki, A. Wierzbicka, 2021, The Journal of Steroid Biochemistry and Molecular Biology.

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

R. Lorenc, E. Pronicka, R. Janas, 1997, Pediatric Nephrology.

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

Y. Anikster, A. Ribes, E. Christensen, 1995, American journal of human genetics.

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

K. Kokoszyńska, M. Pronicki, M. Wieckowski, 2013, Journal of Inherited Metabolic Disease.

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

A. Wierzbicka, J. Limon, E. Pronicka, 2010, Journal of Applied Genetics.

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

B. Andresen, N. Gregersen, J. Wierzba, 2010, Journal of Inherited Metabolic Disease.

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

B. Andresen, M. Pronicki, E. Jabłońska, 2011, Journal of Inherited Metabolic Disease.

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

E. Jamroz, M. Pronicki, J. Wierzba, 2013, Mitochondrion.

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

A. Rynkiewicz, J. Limon, E. Pronicka, 2010, Journal of Applied Genetics.

Respiratory chain complexes in healthy and cardiomyopathic hearts

J. Korewicki, M. Pronicki, E. Pronicka, 2009 .

Pancreatic glucagon levels in infants and children with hyperinsulinemia.

E. Pronicka, A. Lesniewska, B. Gruszczyńska, 1995, The Journal of pediatrics.

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

A. Milewicz, A. Lewiński, J. Książyk, 2010, Developmental Period Medicine.

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

Imiela, A. Milewicz, A. Lewiński, 2010, Endokrynologia Polska.

Prophylaxis of vitamin D deficiency--Polish Recommendations 2009.

Imiela, A. Milewicz, A. Lewiński, 2010, Endokrynologia Polska.

Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency

K. Vesela, M. Pronicki, M. Tesařová, 2006, Pediatric Research.

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

E. Pronicka, A. Gryff-Keller, M. Durán, 2001, Journal of pharmaceutical and biomedical analysis.

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

A. Hanauer, E. Pronicka, T. Alitalo, 2006, European Journal of Human Genetics.

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

R. Płoski, M. Adamowicz, E. Pronicka, 2007, Pediatric Research.

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

R. Płoski, R. Wevers, E. Morava, 2007, Journal of Inherited Metabolic Disease.

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

R. Płoski, E. Pronicka, A. Pollak, 2006, Molecular genetics and metabolism.

Inhibition of Phosphomannose Isomerase by Fructose 1-Phosphate: An Explanation for Defective N-Glycosylation in Hereditary Fructose Intolerance

E. Schaftingen, J. Jaeken, M. Adamowicz, 1996, Pediatric Research.

Anthropometric characteristics of X‐linked hypophosphatemia

M. Syczewska, E. Pronicka, D. Jurkiewicz, 2004, American journal of medical genetics. Part A.

A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets

A. Poustka, T. Meitinger, T. Strom, 1995, Nature Genetics.

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

H. Prokisch, S. Hanein, A. Rötig, 2018, American journal of human genetics.

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

A. Milewicz, A. Lewiński, J. Książyk, 2010, Ginekologia Polska.

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

P. Pinton, C. Giorgi, M. Pronicki, 2010, Biochimica et biophysica acta.

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

E. Pronicka, J. Sykut-Cegielska, D. Jurkiewicz, 2001, Journal of applied genetics.

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

R. Lorenc, E. Pronicka, K. Prószyńska, 1988, The Journal of pediatrics.

Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

L. de Meirleir, R. Wevers, S. Wortmann, 2015, Neuropediatrics.

Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion

D. Cooper, M. Krawczak, H. Blom, 2006, Human mutation.

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

R. Płoski, J. Kosińska, E. Pronicka, 2017, American journal of medical genetics. Part A.

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

T. Meitinger, T. Strom, H. Prokisch, 2017 .

Seventeen novel mutations that cause profound biotinidase deficiency.

T. Suormala, E. R. Baumgartner, C. Pérez-Cerdá, 2002, Molecular genetics and metabolism.

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

E. Mayatepek, A. Schulze, B. Wolf, 1998, Human Genetics.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

Blue Native Electrophoresis: an additional useful tool to study deficiencies of mitochondrial respiratory chain complexes

M. Pronicki, M. Wieckowski, J. Duszyński, 2006 .

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

S. Kmoch, A. Tylki-Szymańska, E. Pronicka, 2008, Molecular genetics and metabolism.

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

G. Węgrzyn, M. Pronicki, K. Kotulska, 2011, Medical science monitor : international medical journal of experimental and clinical research.

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

P. Golik, A. Kaminska, A. Łusakowska, 2015, Human Genetics.

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

H. Eiberg, A. Ribes, S. Kmoch, 1997, Pediatric Research.

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

R. Płoski, M. Rydzanicz, M. Pronicki, 2016, Journal of Translational Medicine.

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

R. Carrozzo, S. Wortmann, T. Haack, 2017, Clinica chimica acta; international journal of clinical chemistry.

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

R. Lorenc, E. Pronicka, R. Reynolds, 1991, The American journal of clinical nutrition.

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

C. Saunders, S. Rahman, S. Wortmann, 2017, Journal of Inherited Metabolic Disease.

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

T. Meitinger, T. Strom, H. Prokisch, 2015, American journal of human genetics.

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

G. Węgrzyn, M. Pronicki, P. Socha, 2010, Journal of Applied Genetics.

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

M. Pronicki, E. Pronicka, D. Piekutowska-Abramczuk, 2001, Journal of Inherited Metabolic Disease.

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

J. Weissenbach, D. Labuda, F. Glorieux, 1996, American journal of human genetics.

CYTOCHROME C OXIDASE DEFICIENCY IN CHILDHOOD

M. Tesařová, J. Zeman, E. Pronicka, 2008 .

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

J. Zeman, J. Houštěk, E. Pronicka, 2004, American journal of physiology. Cell physiology.

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

S. Kmoch, J. Houštěk, E. Pronicka, 2012, Biochimica et biophysica acta.

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

Robert W. Taylor, H. Prokisch, H. Mandel, 2018, Human mutation.

Mutations in CLPB cause intellectual disability , congenital neutropenia , progressive brain atrophy , movement disorder , cataracts and 3-methylglutaconic aciduria Running title : CLPB defect

Arjan, T. Meitinger, H. Prokisch, 2014 .

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

H. Prokisch, K. Claeys, R. Płoski, 2020, Human mutation.

Familial hypomagnesaemia with secondary hypocalcaemia — Autosomal or X-linked inheritance?

E. Pronicka, B. Gruszczyńska, 1991, Journal of Inherited Metabolic Disease.

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

Robert W. Taylor, H. Smeets, P. Bonnen, 2019, Annals of clinical and translational neurology.

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

R. Płoski, M. Rydzanicz, J. Kosińska, 2018, Clinical Genetics.

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

M. Konrad, E. Levtchenko, C. Wagner, 2016, Journal of the American Society of Nephrology : JASN.

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

T. Meitinger, T. Strom, H. Prokisch, 2016, Neuropediatrics.

Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency

E. Pronicka, J. Sykut-Cegielska, J. Taybert, 2005, Journal of Inherited Metabolic Disease.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

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

K. Kotulska, S. Jóźwiak, U. Demkow, 2016, Advances in experimental medicine and biology.

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

R. Płoski, P. Włodarski, P. Krajewski, 2006, Clinical genetics.

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

R. Płoski, M. Rydzanicz, M. Pronicki, 2016, Journal of Translational Medicine.

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

Robert W. Taylor, W. Chung, H. Prokisch, 2017, Annals of neurology.

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

T. Klockgether, J. Kraus, E. Pronicka, 2004 .

Asymptomatic and late‐onset ornithine transcarbamylase (OTC) deficiency in males of a five‐generation family, caused by an A208T mutation

E. Bakker, J. Smeitink, A. Reuser, 1996, Clinical genetics.

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

H. Freeze, M. Patterson, G. Matthijs, 2000, Human mutation.

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

S. Lindstedt, E. Holme, E. Pronicka, 1996, Journal of Inherited Metabolic Disease.

High frequency of missense mutations in glycogen storage disease type VI

A. Dalton, E. Pronicka, V. Layet, 2007, Journal of Inherited Metabolic Disease.

MRI of a family with leukoencephalypathy with vanishing white matter

G. Scheper, M. Knaap, E. Pronicka, 2005, Pediatric Radiology.

The child with chromosome ring 15.

E. Pronicka, L. Wisniewski, A. Niezabitowska, 1979, Klinische Padiatrie.

Dominantly inherited isolated hyperparathyroidism: a syndromic association?

E. Pronicka, K. Kozłowski, E. Rowińska, 1999, Pediatric Radiology.

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

A. Jezela-Stanek, R. Płoski, E. Jamroz, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

A. Tylki-Szymańska, E. Pronicka, J. Chmielik, 2008, Journal of mental deficiency research.

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 evolutionary consideration.

H. Eiberg, A. Ribes, S. Kmoch, 1997 .

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

E. Pronicka, V. Kožich, M. Linnebank, 2004, Human mutation.

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

M. Litwin, M. Konrad, A. Wierzbicka, 2017, Journal of Applied Genetics.

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

R. Płoski, K. Chrzanowska, M. Rydzanicz, 2019, Mitochondrion.

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

R. Płoski, M. Pronicki, J. Książyk, 2016, Molecular genetics and metabolism reports.

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

P. Golik, A. Łusakowska, E. Pronicka, 2015, Human Genetics.

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

M. Pronicki, E. Pronicka, D. Piekutowska-Abramczuk, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

E. Holme, M. Pronicki, M. Houshmand, 2010 .

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

P. Pinton, M. Pronicki, M. Wieckowski, 2011, Folia neuropathologica.

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

Katrien Stouffs, Melanie Bahlo, Holger Prokisch, 2016, American journal of human genetics.

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

J. Książyk, E. Pronicka, M. Bednarska-Makaruk, 2017, Metabolic Brain Disease.

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

E. Pronicka, E. Bartnik, D. Piekutowska-Abramczuk, 2012, Gene.

SURF1 missense mutations promote a mild Leigh phenotype

M. Pronicki, J. Zeman, E. Pronicka, 2009, Clinical genetics.

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

B. Werner, J. Trubicka, E. Pronicka, 2011, Kardiologia polska.

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

K. Kotulska, J. Książyk, E. Pronicka, 2013, Folia neuropathologica.

Hypocapnic hypothesis of Leigh disease.

E. Pronicka, 2017, Medical hypotheses.

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

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations

Z. Krūmiņa, A. Tylki-Szymańska, E. Pronicka, 2008, Journal of Inherited Metabolic 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.

R. Płoski, M. Rydzanicz, M. Pronicki, 2016, Folia neuropathologica.

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

T. Meitinger, T. Strom, H. Lehrach, 1997, Human molecular genetics.

Different mutations in Polish patients with HPRT deficiency - the Lesch-Nyhan and Kelley-Seegmiller syndromes

E. Pronicka, H. Trembacz, J. Kubalska, 1998 .

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

E. Pronicka, J. Kulczycki, E. Rowińska, 2004, Journal of Neurology.

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

R. Płoski, A. Kaminska, J. Trubicka, 2017, Neurologia i neurochirurgia polska.

Proton MR Spectroscopy in Patients with Leigh Syndrome

E. Pronicka, K. Nowak, E. Jurkiewicz, 2011, The neuroradiology journal.

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

M. Pronicki, E. Pronicka, E. Bartnik, 2002, Medical science monitor : international medical journal of experimental and clinical research.

The surgical approach to hyperinsulinism and hypoglycemia in children.

E. Pronicka, P. Kaliciński, A. Prokurat, 1990, Materia medica Polona. Polish journal of medicine and pharmacy.

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

R. Płoski, M. Pronicki, M. Wieckowski, 2014, Clinical genetics.

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

E. Roeder, D. Cummings, H. Smeets, 2009, Journal of Medical Genetics.

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

M. Litwin, M. Konrad, A. Wierzbicka, 2017, Journal of Applied Genetics.

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

E. Obersztyn, I. Hausmanowa-Petrusewicz, M. Jędrzejowska, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

M. Adamowicz, E. Pronicka, 1996, European Journal of Pediatrics.

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

R. Lorenc, E. Pronicka, J. Kansy, 1985, Pediatria polska.

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

S. Kmoch, A. Tylki-Szymańska, E. Pronicka, 2008, Molecular genetics and metabolism.