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List of works by Dorota Piekutowska-Abramczuk

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

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

scientific article published on 2 December 2005
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

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

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
SURF1 missense mutations promote a mild Leigh phenotype.

scientific article published on August 2009
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
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
Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.

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

scientific article
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

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

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

scientific article published on 26 June 2008
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

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

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

scientific article published on 08 December 2007
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

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

scientific article published in February 2018
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
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

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

scientific article published on 15 July 2010
Tyrosinemia type III in an asymptomatic girl

scientific article
Proton MR Spectroscopy in Patients with Leigh Syndrome.

scientific article published on 24 June 2011
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
The frequency of NBN molecular variants in pediatric astrocytic tumors.

scientific article
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
Leigh disease due to SCO2 mutations revealed at extended autopsy.

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

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

scientific article published on January 1, 2001
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

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

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

scientific article published on 02 July 2012
Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma

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

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

scientific article published in January 2008
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
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

scientific article published in 2022
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

scientific article published on 21 January 2017
Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

scientific article published on 01 January 2019

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