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Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.
Dworski S, Lu P, Khan A, Maranda B, Mitchell JJ, Parini R, Di Rocco M, Hugle B, Yoshimitsu M, Magnusson B, Makay B, Arslan N, Guelbert N, Ehlert K, Jarisch A, Gardner-Medwin J, Dagher R, Terreri MT, Lorenco CM, Barillas-Arias L, Tanpaiboon P, Solyom A, Norris JS, He X, Schuchman EH, Levade T, Medin JA. Dworski S, et al. Among authors: solyom a. Biochim Biophys Acta Mol Basis Dis. 2017 Feb;1863(2):386-394. doi: 10.1016/j.bbadis.2016.11.031. Epub 2016 Dec 1. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27915031 Free PMC article.
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Lee MM, McDowell GSV, De Vivo DC, Friedman D, Berkovic SF, Spanou M, Dinopoulos A, Grand K, Sanchez-Lara PA, Allen-Sharpley M, Warman-Chardon J, Solyom A, Levade T, Schuchman EH, Bennett SAL, Dyment DA, Pearson TS. Lee MM, et al. Among authors: solyom a. Ann Clin Transl Neurol. 2022 Dec;9(12):1941-1952. doi: 10.1002/acn3.51687. Epub 2022 Nov 3. Ann Clin Transl Neurol. 2022. PMID: 36325744 Free PMC article. Review.
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR. Elsea SH, et al. Among authors: solyom a. Hum Mutat. 2020 Sep;41(9):1469-1487. doi: 10.1002/humu.24056. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32449975
A Young Infant with Joint Swellings and Subcutaneous Nodules.
Choudhary A, Bijarnia-Mahay S, Garg D, Patra B, Solyom A, Sharma S. Choudhary A, et al. Among authors: solyom a. Indian J Pediatr. 2021 May;88(5):521-522. doi: 10.1007/s12098-020-03270-7. Epub 2020 Jun 15. Indian J Pediatr. 2021. PMID: 32542485 No abstract available.
Immunogenicity of a 2009 pandemic influenza virus A H1N1 vaccine, administered simultaneously with the seasonal influenza vaccine, in children receiving chemotherapy.
Ottóffy G, Horváth P, Muth L, Sólyom A, Garami M, Kovács G, Nyári T, Molnár D, Pauler G, Jankovics I. Ottóffy G, et al. Among authors: solyom a. Pediatr Blood Cancer. 2014 Jun;61(6):1013-6. doi: 10.1002/pbc.24893. Epub 2014 Jan 3. Pediatr Blood Cancer. 2014. PMID: 24395342 Clinical Trial.
113 results