Magdalena Pajdowska
Warsaw, MZ, Poland
Last Updated: 09/26/2026
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Found 18 publications
Emotional and behavioural functioning in children with tyrosinaemia type 1.
Journal: Pediatric endocrinology, diabetes, and metabolism
Published: July 19, 2024
Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns.
Journal: Frontiers in genetics
Published: July 14, 2024
Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.
Journal: Molecular genetics and metabolism reports
Published: July 06, 2021
Transferrin isoform analysis from dried blood spots and serum samples by gel isoelectric focusing for screening congenital disorders of glycosylation.
Journal: Acta biochimica Polonica
Published: December 17, 2020
Long Term Follow-Up of Polish Patients with Isovaleric Aciduria. Clinical and Molecular Delineation of Isovaleric Aciduria.
Journal: Diagnostics (Basel, Switzerland)
Published: August 26, 2020
Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations.
Journal: Molecular genetics and metabolism reports
Published: December 08, 2019
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.
Journal: International journal of pediatric otorhinolaryngology
Published: November 18, 2018
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease.
Journal: Folia neuropathologica
Published: July 06, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Journal: Annals of neurology
Published: June 13, 2017
Nutritional therapy complications in children with ultra-short bowel syndrome include growth deficiency but not cholestasis.
Journal: Acta paediatrica (Oslo, Norway : 1992)
Published: April 10, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
Journal: Journal of inherited metabolic disease
Published: February 15, 2017
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: February 07, 2017
Last Updated: 09/26/2026