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Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
Pisciotta L, Tozzi G, Travaglini L, Taurisano R, Lucchi T, Indolfi G, Papadia F, Di Rocco M, D'Antiga L, Crock P, Vora K, Nightingale S, Michelakakis H, Garoufi A, Lykopoulou L, Bertolini S, Calandra S. Pisciotta L, et al. Among authors: vora k. Atherosclerosis. 2017 Oct;265:124-132. doi: 10.1016/j.atherosclerosis.2017.08.021. Epub 2017 Aug 26. Atherosclerosis. 2017. PMID: 28881270
Sleep-disordered breathing in Australian children with Prader-Willi syndrome following initiation of growth hormone therapy.
Caudri D, Nixon GM, Nielsen A, Mai L, Hafekost CR, Kapur N, Seton C, Tai A, Blecher G, Ambler G, Bergman PB, Vora KA, Crock P, Verge CF, Tham E, Musthaffa Y, Lafferty AR, Jacoby P, Wilson AC, Downs J, Choong CS. Caudri D, et al. J Paediatr Child Health. 2022 Feb;58(2):248-255. doi: 10.1111/jpc.15691. Epub 2021 Aug 16. J Paediatr Child Health. 2022. PMID: 34397126 Free PMC article.
Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study.
Mackay J, Nixon GM, Lafferty AR, Ambler G, Kapur N, Bergman PB, Schofield C, Seton C, Tai A, Tham E, Vora K, Crock P, Verge C, Musthaffa Y, Blecher G, Caudri D, Leonard H, Jacoby P, Wilson A, Choong CS, Downs J. Mackay J, et al. Among authors: vora k. J Autism Dev Disord. 2022 Sep;52(9):3877-3889. doi: 10.1007/s10803-021-05265-5. Epub 2021 Sep 8. J Autism Dev Disord. 2022. PMID: 34498151
Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome.
Choong CS, Nixon GM, Blackmore AM, Chen W, Jacoby P, Leonard H, Lafferty AR, Ambler G, Kapur N, Bergman PB, Schofield C, Seton C, Tai A, Tham E, Vora K, Crock P, Verge C, Musthaffa Y, Blecher G, Wilson A, Downs J. Choong CS, et al. Among authors: vora k. Eur J Pediatr. 2022 Jun;181(6):2491-2500. doi: 10.1007/s00431-022-04439-2. Epub 2022 Mar 22. Eur J Pediatr. 2022. PMID: 35316366 Free PMC article.
Requirements for improving health and well-being of children with Prader-Willi syndrome and their families.
Mackay J, McCallum Z, Ambler GR, Vora K, Nixon G, Bergman P, Shields N, Milner K, Kapur N, Crock P, Caudri D, Curran J, Verge C, Seton C, Tai A, Tham E, Musthaffa Y, Lafferty AR, Blecher G, Harper J, Schofield C, Nielsen A, Wilson A, Leonard H, Choong CS, Downs J. Mackay J, et al. Among authors: vora k. J Paediatr Child Health. 2019 Sep;55(9):1029-1037. doi: 10.1111/jpc.14546. Epub 2019 Jun 30. J Paediatr Child Health. 2019. PMID: 31257692 Free PMC article. Review.
Nanowire Array Breath Acetone Sensor for Diabetes Monitoring.
Wei S, Li Z, Murugappan K, Li Z, Lysevych M, Vora K, Tan HH, Jagadish C, Karawdeniya BI, Nolan CJ, Tricoli A, Fu L. Wei S, et al. Among authors: vora k. Adv Sci (Weinh). 2024 May;11(19):e2309481. doi: 10.1002/advs.202309481. Epub 2024 Mar 13. Adv Sci (Weinh). 2024. PMID: 38477429 Free PMC article.
265 results