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A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report.
Rathnasiri A, Senarathne U, Arunath V, Hoole T, Kumarasiri I, Muthukumarana O, Jasinge E, Mettananda S. Rathnasiri A, et al. Among authors: jasinge e. BMC Endocr Disord. 2021 Oct 24;21(1):214. doi: 10.1186/s12902-021-00876-6. BMC Endocr Disord. 2021. PMID: 34689766 Free PMC article.
A Case of Carbamazepine-Induced Aggravation of Self-Limited Epilepsy with Centrotemporal Spikes Epilepsy and Valproate-Induced Hyperammonemic Encephalopathy in a Child with Heterozygous Gene Variant of Carbomoyl Phosphatase Synthetase Deficiency.
Kankananarachchi I, Jasinge E, Hewawitharana G. Kankananarachchi I, et al. Among authors: jasinge e. Case Rep Neurol Med. 2021 Dec 31;2021:2362679. doi: 10.1155/2021/2362679. eCollection 2021. Case Rep Neurol Med. 2021. PMID: 35003817 Free PMC article.
Many pitfalls in diagnosis of acute intermittent porphyria: a case report.
Indika NLR, Kesavan T, Dilanthi HW, Jayasena KLSPKM, Chandrasiri NDPD, Jayasinghe IN, Piumika UMT, Vidanapathirana DM, Gunarathne KDAV, Dissanayake M, Jasinge E, Arachchi WK, Doheny D, Desnick RJ. Indika NLR, et al. Among authors: jasinge e. BMC Res Notes. 2018 Aug 2;11(1):552. doi: 10.1186/s13104-018-3615-z. BMC Res Notes. 2018. PMID: 30071891 Free PMC article.
28 results