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Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.
Eur J Pediatr. 2016 Mar;175(3):339-46. doi: 10.1007/s00431-015-2644-z. Epub 2015 Oct 6.
Eur J Pediatr. 2016.
PMID: 26440671
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Mardhiah M, Azize NAA, Yakob Y, Affandi O, Hock NL, Rowani MR, Habib A.
Mardhiah M, et al. Among authors: hock nl.
Mol Genet Metab Rep. 2019 Dec 19;22:100548. doi: 10.1016/j.ymgmr.2019.100548. eCollection 2020 Mar.
Mol Genet Metab Rep. 2019.
PMID: 32300527
Free PMC article.
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Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
Ali EZ, Yunus ZM, Desa NM, Hock NL.
Ali EZ, et al. Among authors: hock nl.
J Pediatr Endocrinol Metab. 2013;26(9-10):975-80. doi: 10.1515/jpem-2012-0424.
J Pediatr Endocrinol Metab. 2013.
PMID: 23729548
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Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
Chiu YH, Chang YC, Chang YH, Niu DM, Yang YL, Ye J, Jiang J, Okano Y, Lee DH, Pangkanon S, Kuptanon C, Hock NL, Chiong MA, Cavan BV, Hsiao KJ, Liu TT.
Chiu YH, et al. Among authors: hock nl.
J Hum Genet. 2012 Feb;57(2):145-52. doi: 10.1038/jhg.2011.146. Epub 2012 Jan 12.
J Hum Genet. 2012.
PMID: 22237589
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A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.
Leadley RM, Lang S, Misso K, Bekkering T, Ross J, Akiyama T, Fietz M, Giugliani R, Hendriksz CJ, Hock NL, McGill J, Olaye A, Jain M, Kleijnen J.
Leadley RM, et al. Among authors: hock nl.
Orphanet J Rare Dis. 2014 Nov 18;9:173. doi: 10.1186/s13023-014-0173-x.
Orphanet J Rare Dis. 2014.
PMID: 25404155
Free PMC article.
Review.
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