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2023 5
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Page 1
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Zielonka M, et al. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30. Ann Clin Transl Neurol. 2019. PMID: 31469252 Free PMC article.
A Novel Variant in the LIPA Gene Associated with Distinct Phenotype.
Sarajlija A, Armengol L, Maver A, Kitic I, Prokic D, Cehic M, Djuricic MS, Peterlin B. Sarajlija A, et al. Balkan J Med Genet. 2023 Mar 1;25(1):93-100. doi: 10.2478/bjmg-2022-0010. eCollection 2022 Jun. Balkan J Med Genet. 2023. PMID: 36880034 Free PMC article.
WDR45 mutations may cause a MECP2 mutation-negative Rett syndrome phenotype.
Kulikovskaja L, Sarajlija A, Savic-Pavicevic D, Dobricic V, Klein C, Westenberger A. Kulikovskaja L, et al. Among authors: sarajlija a. Neurol Genet. 2018 Mar 27;4(2):e227. doi: 10.1212/NXG.0000000000000227. eCollection 2018 Apr. Neurol Genet. 2018. PMID: 29600274 Free PMC article. No abstract available.
Appendiceal involvement in a patient with Gaucher disease.
Kocic M, Djuricic SM, Djordjevic M, Savic D, Kecman B, Sarajlija A. Kocic M, et al. Among authors: sarajlija a. Blood Cells Mol Dis. 2018 Feb;68:109-111. doi: 10.1016/j.bcmd.2016.09.002. Epub 2016 Sep 30. Blood Cells Mol Dis. 2018. PMID: 27717752
Age-specific causes of upper gastrointestinal bleeding in children.
Kocic M, Rasic P, Marusic V, Prokic D, Savic D, Milickovic M, Kitic I, Mijovic T, Sarajlija A. Kocic M, et al. Among authors: sarajlija a. World J Gastroenterol. 2023 Dec 21;29(47):6095-6110. doi: 10.3748/wjg.v29.i47.6095. World J Gastroenterol. 2023. PMID: 38186684 Free PMC article. Review.
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free article.
33 results