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Clinical presentation of 13 children with alkaptonuria.
Kujawa MJ, Świętoń D, Wierzba J, Grzywińska M, Budziło O, Limanówka M, Pierzynowska K, Gaffke L, Grabowski Ł, Cyske Z, Rintz E, Rąbalski Ł, Kosiński M, Węgrzyn G, Mański A, Anikiej-Wiczenbach P, Ranganath L, Piskunowicz M. Kujawa MJ, et al. Among authors: wierzba j. J Inherit Metab Dis. 2023 Sep;46(5):916-930. doi: 10.1002/jimd.12647. Epub 2023 Jul 10. J Inherit Metab Dis. 2023. PMID: 37395296
Relationship between growth and intelligence quotient in children with Down syndrome.
Kłosowska A, Kuchta A, Ćwiklińska A, Sałaga-Zaleska K, Jankowski M, Kłosowski P, Mański A, Zwiefka M, Anikiej-Wiczenbach P, Wierzba J. Kłosowska A, et al. Among authors: wierzba j. Transl Pediatr. 2022 Apr;11(4):505-513. doi: 10.21037/tp-21-424. Transl Pediatr. 2022. PMID: 35558976 Free PMC article.
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: wierzba j. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S373-7. doi: 10.1007/s10545-010-9190-7. Epub 2010 Sep 3. J Inherit Metab Dis. 2010. PMID: 20814823
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
Jezela-Stanek A, Ciara E, Małunowicz E, Chrzanowska K, Latos-Bieleńska A, Krajewska-Walasek M; Smith-Lemli-Opitz syndrome Collaborative Group. Jezela-Stanek A, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S241-8. doi: 10.1007/s10545-010-9132-4. Epub 2010 Jun 16. J Inherit Metab Dis. 2010. PMID: 20556518
Down syndrome, increased risk of dementia and lipid disturbances.
Kłosowska A, Ćwiklińska A, Kuchta A, Berlińska A, Jankowski M, Wierzba J. Kłosowska A, et al. Among authors: wierzba j. Dev Period Med. 2017;21(1):69-73. doi: 10.34763/devperiodmed.20172101.6973. Dev Period Med. 2017. PMID: 28551695 Free PMC article. Review.
101 results