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Oculomotor abnormalities in children with Niemann-Pick type C.
Blundell J, Frisson S, Chakrapani A, Gissen P, Hendriksz C, Vijay S, Olson A. Blundell J, et al. Among authors: chakrapani a. Mol Genet Metab. 2018 Feb;123(2):159-168. doi: 10.1016/j.ymgme.2017.11.004. Epub 2017 Nov 16. Mol Genet Metab. 2018. PMID: 29191430
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE. Baruteau J, et al. Among authors: chakrapani a. J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1. J Inherit Metab Dis. 2017. PMID: 28251416 Free PMC article.
Bone marrow transplantation in glycogen storage disease type 1b.
Pierre G, Chakupurakal G, McKiernan P, Hendriksz C, Lawson S, Chakrapani A. Pierre G, et al. Among authors: chakrapani a. J Pediatr. 2008 Feb;152(2):286-8. doi: 10.1016/j.jpeds.2007.09.031. J Pediatr. 2008. PMID: 18206704
The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study.
MacDonald A, Webster R, Whitlock M, Gerrard A, Daly A, Preece MA, Evans S, Ashmore C, Chakrapani A, Vijay S, Santra S. MacDonald A, et al. Among authors: chakrapani a. J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):297-304. doi: 10.1515/jpem-2017-0426. J Pediatr Endocrinol Metab. 2018. PMID: 29425111 Clinical Trial.
The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.
Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA. Hendriksz CJ, et al. Among authors: chakrapani a. Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Curr Med Res Opin. 2017. PMID: 28276873 Free article. Review.
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Forny P, Footitt E, Davison JE, Lam A, Woodward CE, Batzios S, Bhate S, Chakrapani A, Cleary M, Gissen P, Grunewald S, Hurst JA, Scott R, Heales S, Jacques TS, Cullup T, Rahman S. Forny P, et al. Among authors: chakrapani a. Neurol Genet. 2021 May 25;7(3):e597. doi: 10.1212/NXG.0000000000000597. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34056100 Free PMC article.
160 results