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Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
Leong HY, Abdul Azize NA, Chew HB, Keng WT, Thong MK, Mohd Khalid MKN, Hung LC, Mohamed Zainudin N, Ramlee A, Md Haniffa MA, Yakob Y, Ngu LH. Leong HY, et al. Orphanet J Rare Dis. 2019 Jun 14;14(1):143. doi: 10.1186/s13023-019-1105-6. Orphanet J Rare Dis. 2019. PMID: 31200731 Free PMC article.
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Leung GK, Ying D, Mak CC, Chen XY, Xu W, Yeung KS, Wong WL, Chu YW, Mok GT, Chau CS, McLuskey J, Ong WP, Leong HY, Chan KY, Yang W, Chen JH, Li AM, Sham PC, Lau YL, Chung BH, Lee SL. Leung GK, et al. Among authors: leong hy. Mol Genet Genomic Med. 2016 Nov 13;5(1):40-49. doi: 10.1002/mgg3.258. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116329 Free PMC article.
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N. Miyake N, et al. Among authors: leong hy. Am J Hum Genet. 2016 Oct 6;99(4):950-961. doi: 10.1016/j.ajhg.2016.08.005. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666374 Free PMC article.
Lafora disease in a Malaysian with a rare mutation in the EPM2A gene.
Tee SK, Ong TL, Aris A, See SML, Leong HY, Khalid MKNM, Shanthi V. Tee SK, et al. Among authors: leong hy. Seizure. 2019 Apr;67:78-81. doi: 10.1016/j.seizure.2019.03.012. Epub 2019 Mar 25. Seizure. 2019. PMID: 30947044 Free article. No abstract available.
28 results