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Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J. Uusimaa J, et al. Among authors: van mourik i. Eur J Hum Genet. 2014 Feb;22(2):184-91. doi: 10.1038/ejhg.2013.112. Epub 2013 May 29. Eur J Hum Genet. 2014. PMID: 23714749 Free PMC article.
Wilson disease in children and adolescents.
Fernando M, van Mourik I, Wassmer E, Kelly D. Fernando M, et al. Among authors: van mourik i. Arch Dis Child. 2020 May;105(5):499-505. doi: 10.1136/archdischild-2018-315705. Epub 2020 Jan 23. Arch Dis Child. 2020. PMID: 31974298 Review.
Paediatric Hepatology Dependency score (PHD score): an audit tool.
Cowley AD, Cummins C, Beath SV, Lloyd C, van Mourik ID, McKiernan PJ, Kelly DA. Cowley AD, et al. J Pediatr Gastroenterol Nutr. 2007 Jan;44(1):108-15. doi: 10.1097/01.mpg.0000243427.86345.25. J Pediatr Gastroenterol Nutr. 2007. PMID: 17204963
31 results