Lista de obras - Dorota Piekutowska-Abramczuk

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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.

artículo científico publicado en 2001

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.

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2022

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

Leigh disease due to SCO2 mutations revealed at extended autopsy.

artículo científico publicado en 2015

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?

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2010

Proton MR Spectroscopy in Patients with Leigh Syndrome.

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado el 1 de enero de 2001

SURF1 missense mutations promote a mild Leigh phenotype.

artículo científico publicado en 2009

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

artículo científico publicado en 2014

The frequency of NBN molecular variants in pediatric astrocytic tumors.

artículo científico publicado en 2009

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

artículo científico publicado en 2017

The molecular background of Leigh syndrome

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

Lista de obras de 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.