Paweł Kowalski - Concepedia

Author

Paweł Kowalski

Children's Memorial Health Institute ORCID

Also Known As

Pawel Kowalski, Paweł Kowalski

Publications

277

Citations

H-Index

Concepts

All Affiliations

Children's Memorial Health Institute University of Gdańsk

About

Paweł Kowalski is an author at Children's Memorial Health Institute specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	113
2	Biochemistry	1	1	22
3	Biology	1	1	10
4	Cell Biology	1	1	22
5	Metabolism	1	1	22

Paweł Kowalski

Publications

235

Citations

H-Index

Page 1

	Year	Citations
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 Ewa Pronicka, Anna Węglewska-Jurkiewicz, Joanna Taybert, Journal of Applied Genetics	2010	52
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 Ewa Pronicka, Anna Węglewska-Jurkiewicz, Maciej Pronicki, Medical Science Monitor	2011	40
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency Maciej Pronicki, Paweł Kowalski, Dorota Piekutowska‐Abramczuk, European Journal of Paediatric Neurology Rare DiseasesGenetic DisorderMedicineGeneticsHomozygous Mutation	2009	33
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations Elżbieta Ciara, Ewa Popowska, Dorota Piekutowska‐Abramczuk, European Journal of Medical Genetics GeneticsVal326leu Dhcr7 MutationsMolecular BiologyMolecular GeneticsSlos Carrier Frequency	2006	29
Modulation of mitochondrial dysfunction-related oxidative stress in fibroblasts of patients with Leigh syndrome by inhibition of prooxidative p66Shc pathway Aleksandra Wojtala, Agnieszka Karkucińska‐Więckowska, Vilma A. Sardão, Mitochondrion BiochemistryMitochondrial FunctionMitochondrial DynamicPhysiologyProoxidative P66shc Pathway	2017	22
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype–phenotype correlation Ewa Pronicka, Dorota Piekutowska‐Abramczuk, Tamara Szymańska-Dębińska, Mitochondrion Polish ChildrenDevelopmental BiologySco2 DeficiencyGenetic DisorderGenetics	2013	19
Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis Dorota Wesół‐Kucharska, Milena Greczan, Magdalena Kaczor, Molecular Genetics and Metabolism Reports	2021	16
G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child. Maciej Pronicki, Jolanta Sykut‐Cegielska, Ewa Matyja, PubMed	2007	14
Molecular investigations of mitochondrial deletions: Evaluating the usefulness of different genetic tests Katarzyna Tońska, Dorota Piekutowska‐Abramczuk, Magdalena Kaliszewska, Gene BiologyGenetic TestingMitochondrial FunctionGeneticsMitochondrial Deletions	2012	10

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