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Delayed diagnosis of phenylketonuria - a case report of two siblings.
Narayanan D, Barski R, Henderson MJ, Luvai A, Chandrajay D, Stainforth C, Bradley J, Rogozinski H, Sharma R. Narayanan D, et al. Among authors: sharma r. Ann Clin Biochem. 2014 May;51(Pt 3):406-8. doi: 10.1177/0004563213503818. Epub 2013 Oct 4. Ann Clin Biochem. 2014. PMID: 24097808
Stroke in a young man.
Narayanan D, Luvai A, Barski R, Sharma R. Narayanan D, et al. Among authors: sharma r. BMJ. 2013 Jul 15;347:f4484. doi: 10.1136/bmj.f4484. BMJ. 2013. PMID: 23857996 No abstract available.
Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial.
Sharma R, Hastings C, Staretz-Chacham O, Raiman J, Paucar M, Spiegel R, Murray B, Hurst B, Liu B, Kjems L, Hrynkow S. Sharma R, et al. Mol Genet Metab Rep. 2023 Jun 29;36:100988. doi: 10.1016/j.ymgmr.2023.100988. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37670901 Free PMC article.
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T. Bolton SC, et al. Among authors: sharma r. Orphanet J Rare Dis. 2022 Feb 14;17(1):51. doi: 10.1186/s13023-022-02200-4. Orphanet J Rare Dis. 2022. PMID: 35164809 Free PMC article.
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing.
Ghosh A, Schlecht H, Heptinstall LE, Bassett JK, Cartwright E, Bhaskar SS, Urquhart J, Broomfield A, Morris AA, Jameson E, Schwahn BC, Walter JH, Douzgou S, Murphy H, Hendriksz C, Sharma R, Wilcox G, Crushell E, Monavari AA, Martin R, Doolan A, Senniappan S, Ramsden SC, Jones SA, Banka S. Ghosh A, et al. Among authors: sharma r. Arch Dis Child. 2017 Nov;102(11):1019-1029. doi: 10.1136/archdischild-2017-312738. Epub 2017 May 3. Arch Dis Child. 2017. PMID: 28468868
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