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Items: 1 to 20 of 27

1.

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.

Orphanet J Rare Dis. 2019 Jun 14;14(1):143. doi: 10.1186/s13023-019-1105-6.

2.

Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.

Abdullah IS, Teh SH, Khaidizar FD, Ngu LH, Keng WT, Yap S, Mohamed Z.

Genes Genomics. 2019 Aug;41(8):885-893. doi: 10.1007/s13258-019-00815-9. Epub 2019 Apr 26.

PMID:
31028654
3.

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.

Williams M, Valayannopoulos V, Altassan R, Chung WK, Heijboer AC, Keng WT, Lapatto R, McClean P, Mulder MF, Tylki-Szymańska A, Walenkamp ME, Alfadhel M, Alakeel H, Salomons GS, Eyaid W, Wamelink MMC.

J Inherit Metab Dis. 2019 Jan;42(1):147-158. doi: 10.1002/jimd.12036.

PMID:
30740741
4.

Expanding the phenome and variome of skeletal dysplasia.

Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS.

Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5.

PMID:
29620724
5.

Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients.

Moey LH, Abdul Azize NA, Yakob Y, Leong HY, Keng WT, Chen BC, Ngu LH.

Pediatr Neonatol. 2018 Aug;59(4):397-403. doi: 10.1016/j.pedneo.2017.11.006. Epub 2017 Nov 13.

6.

Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability.

Ali EZ, Yakob Y, Md Desa N, Ishak T, Zakaria Z, Ngu LK, Keng WT.

Malays J Pathol. 2017 Aug;39(2):99-106.

7.

Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.

Ismail NF, Rani AQ, Nik Abdul Malik NM, Boon Hock C, Mohd Azlan SN, Abdul Razak S, Keng WT, Ngu LH, Silawati AR, Yahya NA, Mohd Yusoff N, Sasongko TH, Zabidi-Hussin ZA.

J Mol Diagn. 2017 Mar;19(2):265-276. doi: 10.1016/j.jmoldx.2016.10.009. Epub 2017 Jan 11.

PMID:
28087349
8.

Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges.

Yunus ZM, Rahman SA, Choy YS, Keng WT, Ngu LH.

J Pediatr Endocrinol Metab. 2016 Sep 1;29(9):1031-9. doi: 10.1515/jpem-2016-0028.

PMID:
27544719
9.

FAT1 mutations cause a glomerulotubular nephropathy.

Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J, Fang H, Airik R, Vega-Warner V, Cho KJ, Chan TA, Morris LG, ffrench-Constant C, Allen N, McNeill H, Büscher R, Kyrieleis H, Wallot M, Gaspert A, Kistler T, Milford DV, Saleem MA, Keng WT, Alexander SI, Valentini RP, Licht C, Teh JC, Bogdanovic R, Koziell A, Bierzynska A, Soliman NA, Otto EA, Lifton RP, Holzman LB, Sibinga NE, Walz G, Tufro A, Hildebrandt F.

Nat Commun. 2016 Feb 24;7:10822. doi: 10.1038/ncomms10822.

10.

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, Gibson L, Goodship JA, Jackson AP, Keng WT, King MD, McCann E, Motojima T, Murray JE, Omata T, Pilz D, Pope K, Sugita K, White SM, Wilson IJ.

Genet Med. 2016 May;18(5):483-93. doi: 10.1038/gim.2015.110. Epub 2015 Jul 23.

11.

Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome.

Ismail NF, Nik Abdul Malik NM, Mohseni J, Rani AM, Hayati F, Salmi AR, Narazah MY, Zabidi-Hussin ZA, Silawati AR, Keng WT, Ngu LH, Sasongko TH.

Jpn J Clin Oncol. 2014 May;44(5):506-11. doi: 10.1093/jjco/hyu024. Epub 2014 Mar 30.

PMID:
24683199
12.

Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl.

Chen BC, Balasubramaniam S, McGown IN, O'Neill JP, Chng GS, Keng WT, Ngu LH, Duley JA.

Brain Dev. 2014 Aug;36(7):593-600. doi: 10.1016/j.braindev.2013.08.013. Epub 2013 Sep 18.

PMID:
24055166
13.

A mother with variant Turner syndrome and two daughters with trisomy X: a case report.

Ramachandram S, Keng WT, Ariffin R, Ganesan V.

J Genet. 2013;92(2):313-6. No abstract available.

14.

Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.

Hung KL, Wang JS, Keng WT, Chen HJ, Liang JS, Ngu LH, Lu JF.

Pediatr Neurol. 2013 Sep;49(3):185-90. doi: 10.1016/j.pediatrneurol.2013.04.021. Epub 2013 Jul 5.

PMID:
23835273
15.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC.

Mol Syndromol. 2013 Mar;4(3):107-13. doi: 10.1159/000342486. Epub 2012 Oct 2.

16.

Familial complex chromosomal rearrangement in a dysmorphic child with global developmental delay.

Ngim CF, Keng WT, Ariffin R.

Singapore Med J. 2011 Oct;52(10):e206-9.

PMID:
22009409
17.

Clinical features and respiratory complications in Myhre syndrome.

McGowan R, Gulati R, McHenry P, Cooke A, Butler S, Keng WT, Murday V, Whiteford M, Dikkers FG, Sikkema-Raddatz B, van Essen T, Tolmie J.

Eur J Med Genet. 2011 Nov-Dec;54(6):e553-9. doi: 10.1016/j.ejmg.2011.07.001. Epub 2011 Jul 21.

PMID:
21816239
18.
19.

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.

Chew HB, Ngu LH, Zabedah MY, Keng WT, Balasubramaniam S, Hanifah MJ, Kobayashi K.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S489-95. doi: 10.1007/s10545-010-9248-6. Epub 2010 Dec 16.

PMID:
21161389
20.

Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.

Balasubramaniam S, Wamelink MM, Ngu LH, Talib A, Salomons GS, Jakobs C, Keng WT.

J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):113-6. doi: 10.1097/MPG.0b013e3181f50388. No abstract available.

PMID:
21119539

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