List of works - Dorota Piekutowska-Abramczuk

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

scientific article published in January 2013

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

article

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 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

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

scientific article

Abstracts

article by L. Bie et al published 1 April 2013 in Neuro-Oncology

Acute liver failure due to DGUOK deficiency-is liver transplantation justified?

scientific article published on 08 April 2020

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

scientific article published on 31 March 2016

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

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

Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies

scientific article published on 01 March 2006

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

scientific article

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

scientific article published on November 2000

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

scientific article published on 08 January 2020

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 cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland

scientific article published on 16 March 2019

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

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma

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

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

scientific article published on 21 December 2020

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

scientific article published on 15 July 2010

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

scientific article published on 01 January 2007

Ganglioglioma associated with alterations of NBN gene. A case report.

scientific article published in January 2009

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

scientific article published in 2022

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

scientific article

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

scientific article published on 26 June 2008

High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study

scientific article published on 5 May 2010

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

scientific article published on 01 January 2018

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

scientific article published on 01 January 2019

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

scientific article published on 21 January 2017

Leigh disease due to SCO2 mutations revealed at extended autopsy.

scientific article

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

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

scientific article

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature

scientific article published on 08 December 2007

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

scientific article published in January 2008

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

Monitoring of dipeptidyl peptidase-IV (DPP-IV) activity in patients with mucopolysaccharidoses types I and II on enzyme replacement therapy - Results of a pilot study

scientific article published on 16 November 2015

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

scientific journal article

NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy

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

scientific article published in February 2018

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

scientific article

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

scientific article

Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy.

scientific article published on 18 February 2010

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

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

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

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

scientific article

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

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

scientific article

The frequency of NBN molecular variants in pediatric astrocytic tumors.

scientific article

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

scientific article published on 10 November 2018

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

scientific article

The molecular background of Leigh syndrome

scientific article published in May 2008

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

Tyrosinemia type III in an asymptomatic girl

scientific article

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

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

scientific article published on 16 June 2015

List of works by Dorota Piekutowska-Abramczuk

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

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

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

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

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

Abstracts

Acute liver failure due to DGUOK deficiency-is liver transplantation justified?

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

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

Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies

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

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

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations

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

Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland

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

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma

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

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

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

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

Ganglioglioma associated with alterations of NBN gene. A case report.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

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

High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: evidence from a longitudinal study

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

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

Leigh disease due to SCO2 mutations revealed at extended autopsy.

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

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

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

Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature

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

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

Molecular studies of Polish patients with respiratory chain complex I deficiency

Monitoring of dipeptidyl peptidase-IV (DPP-IV) activity in patients with mucopolysaccharidoses types I and II on enzyme replacement therapy - Results of a pilot study

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

NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy

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

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

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

Nijmegen breakage syndrome: Long-term monitoring of viral and immunological biomarkers in peripheral blood before development of malignancy.

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

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

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

Proton MR Spectroscopy in Patients with Leigh Syndrome.

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

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

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

SURF1 missense mutations promote a mild Leigh phenotype.

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

The frequency of NBN molecular variants in pediatric astrocytic tumors.

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

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

The molecular background of Leigh syndrome

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

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

Tyrosinemia type III in an asymptomatic girl

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

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