List of works - Magdalena Pajdowska

"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 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

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

scientific article

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

scientific article published on 08 January 2020

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

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

scientific article published on April 2011

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

scientific article published in January 2011

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

scientific article published on 30 January 2013

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

scientific article published on 23 September 2020

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

Nutritional therapy complications in children with ultra-short bowel syndrome include growth deficiency but not cholestasis

scientific article published on 6 February 2018

Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.

scientific article

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

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype

scientific article

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

scientific article published on 2 December 2017

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

List of works by Magdalena Pajdowska

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

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

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

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

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

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

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

Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria

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

Nutritional therapy complications in children with ultra-short bowel syndrome include growth deficiency but not cholestasis

Outcomes of oral biotin treatment in patients with biotinidase deficiency - Twenty years follow-up.

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

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype

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

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