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A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. Alston CL, et al. Among authors: knerr i. J Med Genet. 2016 Sep;53(9):634-41. doi: 10.1136/jmedgenet-2015-103576. Epub 2016 Apr 18. J Med Genet. 2016. PMID: 27091925 Free PMC article.
Amino Acids and Inherited Amino Acid-Related Disorders.
Knerr I, Bernstein L, Crushell E, O'Sullivan S, Sass JO. Knerr I, et al. J Nutr Metab. 2018 Sep 10;2018:5629454. doi: 10.1155/2018/5629454. eCollection 2018. J Nutr Metab. 2018. PMID: 30275990 Free PMC article. No abstract available.
Finger Prick to Finger Tip: Use of Mobile Phone Technology to Send PKU Blood Results.
Clark A, Deverell D, Corcoran E, Macauley M, Newcombe N, Branagan P, Coughlan A, Daly E, Moore Heslin A, Crushell E, Hughes J, Knerr I, Monavari A. Clark A, et al. Among authors: knerr i. J Nutr Metab. 2018 Jun 24;2018:2178346. doi: 10.1155/2018/2178346. eCollection 2018. J Nutr Metab. 2018. PMID: 30034865 Free PMC article.
127 results