| Year |
Citation |
Score |
| 2020 |
Lam CW, Fong NC, Yee-Ching Chan T, Lau KC, Ling TK, Wai-Yau Mak D, Cheng X, Law CY. Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies. Clinica Chimica Acta; International Journal of Clinical Chemistry. PMID 32027886 DOI: 10.1016/J.Cca.2020.01.017 |
0.367 |
|
| 2020 |
Lee HH, Wong S, Sheng B, Pan NK, Leung YF, Lau KD, Cheng YS, Luen-Cheung H, Richard L, Lee CN, Tsoi TH, Cheung YN, Yat-Pang Michael F, Kan NA, Chu YJ, ... ... Lam CW, et al. Clinical and pathological characterization of FLNC-related myofibrillar myopathy caused by founder variant c.8129G > A in Hong Kong Chinese. Clinical Genetics. PMID 32022900 DOI: 10.1111/Cge.13715 |
0.358 |
|
| 2019 |
Ling TK, Law CY, Ko CH, Fong NC, Wong KC, Lee KL, Chu WC, Brea-Calvo G, Lam CW. Clinical whole-exome sequencing reveals a common pathogenic variant in patients with COQ10 deficiency: An underdiagnosed cause of mitochondriopathy. Clinica Chimica Acta; International Journal of Clinical Chemistry. PMID 31325447 DOI: 10.1016/J.Cca.2019.07.016 |
0.334 |
|
| 2019 |
Lam CW, Yeung WL, Ling TK, Wong KC, Law CY. Whole-exome sequencing of a quartet family identifies DTYMK mutations in siblings with mitochondrial DNA depletion syndrome. Clinica Chimica Acta; International Journal of Clinical Chemistry. PMID 31271740 DOI: 10.1016/J.Cca.2019.06.028 |
0.329 |
|
| 2019 |
Ling T, Law C, Ko C, Fong N, Wong K, Lee K, Chu WC, Brea-Calvo G, Lam C. A common COQ4 mutation in undiagnosed mitochondrial disease: a local case series Pathology. 51. DOI: 10.1016/J.Pathol.2018.12.317 |
0.326 |
|
| 2017 |
Lam CW, Yeung WL, Law CY. Global developmental delay and intellectual disability associated with a de novo TOP2B mutation. Clinica Chimica Acta; International Journal of Clinical Chemistry. PMID 28343847 DOI: 10.1016/J.Cca.2017.03.022 |
0.338 |
|
| 2016 |
Lam CW, Wong KS, Leung HW, Law CY. Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations. European Journal of Human Genetics : Ejhg. PMID 27966543 DOI: 10.1038/Ejhg.2016.162 |
0.387 |
|
| 2016 |
Law CY, Yeung WL, Cheung YF, Chan HF, Fung E, Hui J, Yung IO, Yuen YP, Chan AO, Lam CW. A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients. Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi. 22: 619-22. PMID 27920401 DOI: 10.12809/Hkmj154579 |
0.361 |
|
| 2016 |
Lau SK, Lee KC, Lo GC, Ding VS, Chow WN, Ke TY, Curreem SO, To KK, Ho DT, Sridhar S, Wong SC, Chan JF, Hung IF, Sze KH, Lam CW, et al. Metabolomic Profiling of Plasma from Melioidosis Patients Using UHPLC-QTOF MS Reveals Novel Biomarkers for Diagnosis. International Journal of Molecular Sciences. 17. PMID 26927094 DOI: 10.3390/Ijms17030307 |
0.311 |
|
| 2015 |
Siu WK, Lam CW, Gao WW, Tang VH, Jin DY, Mak CM. Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism. Behavioural Brain Research. PMID 26518331 DOI: 10.1016/J.Bbr.2015.10.041 |
0.309 |
|
| 2015 |
Law CY, Chang ST, Cho SY, Yau EK, Ng GS, Fong NC, Lam CW. Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy. Clinica Chimica Acta; International Journal of Clinical Chemistry. PMID 26485252 DOI: 10.1016/J.Cca.2015.10.011 |
0.32 |
|
| 2015 |
Lam CW, Law CY, Siu WK, Fung CW, Yau MM, Huen KF, Lee HH, Mak CM. Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke. Clinica Chimica Acta; International Journal of Clinical Chemistry. 448: 211-214. PMID 26169155 DOI: 10.1016/J.Cca.2015.06.028 |
0.403 |
|
| 2015 |
Lam CW, Law CY, Leung KF, Lai CK, Pak-lam Chen S, Chan B, Chan KY, Yuen YP, Mak CM, Yan-wo Chan A. NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome. Clinica Chimica Acta; International Journal of Clinical Chemistry. 440: 201-4. PMID 25445412 DOI: 10.1016/J.Cca.2014.10.030 |
0.36 |
|
| 2015 |
Lam CW, Law CY, Sze KH, To KK. Quantitative metabolomics of urine for rapid etiological diagnosis of urinary tract infection: evaluation of a microbial-mammalian co-metabolite as a diagnostic biomarker. Clinica Chimica Acta; International Journal of Clinical Chemistry. 438: 24-8. PMID 25108210 DOI: 10.1016/J.Cca.2014.07.038 |
0.314 |
|
| 2015 |
Tseng A, Li W, Lee K, Yung K, Lam C, Mak T. Abstract A2-66: Integrative analysis of gene expression and metabolism in isocitrate dehydrogenase 1 mutant acute myeloid leukemia and myeloid knock in mouse model Cancer Research. 75. DOI: 10.1158/1538-7445.Compsysbio-B1-18 |
0.319 |
|
| 2015 |
Lam C, Law C. Identifying the disease gene for a new locus of congenital myasthenic syndrome Pathology. 47. DOI: 10.1097/01.Pat.0000461572.43523.6E |
0.338 |
|
| 2015 |
Lam C, Law C. A metabonomic approach for biomarker discovery for diagnosis of malignant pleural effusions (MPE) Pathology. 47. DOI: 10.1097/01.Pat.0000461559.85212.57 |
0.312 |
|
| 2015 |
Law C, Lam C. NMR-based urinalysis for rapid diagnosis of inborn errors of metabolism Pathology. 47. DOI: 10.1097/01.Pat.0000461460.65020.9D |
0.309 |
|
| 2014 |
Lam CW, Law CY, To KK, Cheung SK, Lee KC, Sze KH, Leung KF, Yuen KY. NMR-based metabolomic urinalysis: a rapid screening test for urinary tract infection. Clinica Chimica Acta; International Journal of Clinical Chemistry. 436: 217-23. PMID 24909875 DOI: 10.1016/J.Cca.2014.05.014 |
0.318 |
|
| 2014 |
Lam CW. PrimeIndel: four-prime-number genetic code for indel decryption and sequence read alignment. Clinica Chimica Acta; International Journal of Clinical Chemistry. 436: 1-4. PMID 24769229 DOI: 10.1016/J.Cca.2014.04.006 |
0.305 |
|
| 2014 |
Lam C, Siu W. Neogenin mutations in autism spectrum disorders Pathology. 46. DOI: 10.1097/01.Pat.0000443654.39216.10 |
0.403 |
|
| 2013 |
Mak CM, Lee HC, Chan AY, Lam CW. Inborn errors of metabolism and expanded newborn screening: review and update. Critical Reviews in Clinical Laboratory Sciences. 50: 142-62. PMID 24295058 DOI: 10.3109/10408363.2013.847896 |
0.304 |
|
| 2013 |
Cho SY, Lam CW, Tong SF, Siu WK. X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation. Clinica Chimica Acta; International Journal of Clinical Chemistry. 426: 75-8. PMID 24055370 DOI: 10.1016/J.Cca.2013.08.026 |
0.349 |
|
| 2013 |
Cho SY, Goh DL, Lau KC, Ong HT, Lam CW. Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency. Clinica Chimica Acta; International Journal of Clinical Chemistry. 426: 13-7. PMID 23994568 DOI: 10.1016/J.Cca.2013.08.013 |
0.376 |
|
| 2013 |
Cho SY, Siu TS, Ma O, Tam S, Lam CW. Novel mutations in myopathic form of carnitine palmitoyltransferase II deficiency in a Chinese patient. Clinica Chimica Acta; International Journal of Clinical Chemistry. 425: 125-7. PMID 23911907 DOI: 10.1016/J.Cca.2013.07.018 |
0.339 |
|
| 2013 |
Mak CM, Lam CW, Chim S, Siu TS, Ng KF, Tam S. Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong. Clinical Biochemistry. 46: 155-9. PMID 23000314 DOI: 10.1016/J.Clinbiochem.2012.09.010 |
0.383 |
|
| 2012 |
Siu WK, Mak CM, Siu SL, Siu TS, Pang CY, Lam CW, Kwong NS, Chan AY. Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening. Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B. 21: 184-7. PMID 22847164 DOI: 10.1097/Pdm.0B013E31825554D0 |
0.385 |
|
| 2012 |
Mak CM, Lee CY, Lam CW, Siu WK, Hung VC, Chan AY. Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation. Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B. 21: 56-9. PMID 22306677 DOI: 10.1097/Pdm.0B013E318220Bb0E |
0.366 |
|
| 2012 |
Lee HC, Lai CK, Yau KC, Siu TS, Mak CM, Yuen YP, Chan KY, Tam S, Lam CW, Chan AY. Non-invasive urinary screening for aromatic L-amino acid decarboxylase deficiency in high-prevalence areas: a pilot study. Clinica Chimica Acta; International Journal of Clinical Chemistry. 413: 126-30. PMID 21963339 DOI: 10.1016/J.Cca.2011.09.008 |
0.36 |
|
| 2011 |
Mak CM, Ko CH, Lam CW, Lau WL, Siu WK, Chen SP, Law CY, Lai CK, Yu CM, Chan AY. Phenylketonuria in Hong Kong Chinese: a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China. Chinese Medical Journal. 124: 2556-8. PMID 21933604 DOI: 10.3760/Cma.J.Issn.0366-6999.2011.16.028 |
0.363 |
|
| 2011 |
Siu WK, Ma RC, Lam CW, Mak CM, Yuen YP, Lo FM, Chan KW, Lam SF, Ling SC, Tong SF, So WY, Chow CC, Tang MH, Tam WH, Chan AY. Molecular basis of von Hippel-Lindau syndrome in Chinese patients. Chinese Medical Journal. 124: 237-41. PMID 21362373 DOI: 10.3760/Cma.J.Issn.0366-6999.2011.02.016 |
0.399 |
|
| 2011 |
Mak CM, Sheng B, Lee HH, Lau KK, Chan WT, Lam CW, Chan YW. Young-onset parkinsonism in a Hong Kong Chinese man with adult-onset Hallervorden-Spatz syndrome. The International Journal of Neuroscience. 121: 224-7. PMID 21198414 DOI: 10.3109/00207454.2010.542843 |
0.312 |
|
| 2011 |
Lam CW, Lau KC, Mak CM, Tsang MW, Chan YW. Circulating fluorocytes at the first attack of acute intermittent porphyria: a missing link in the pathogenesis. Clinica Chimica Acta; International Journal of Clinical Chemistry. 412: 208-12. PMID 20850424 DOI: 10.1016/J.Cca.2010.09.005 |
0.384 |
|
| 2011 |
Yeung WL, Wong VC, Chan KY, Hui J, Fung CW, Yau E, Ko CH, Lam CW, Mak CM, Siu S, Low L. Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. Journal of Child Neurology. 26: 179-87. PMID 20823027 DOI: 10.1177/0883073810377014 |
0.302 |
|
| 2010 |
Lee HC, Lai CK, Siu TS, Yuen YP, Chan KY, Chan AY, Tam S, Mak CM, Lam CW. Role of postmortem genetic testing demonstrated in a case of glutaric aciduria type II. Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B. 19: 184-6. PMID 20736750 DOI: 10.1097/Pdm.0B013E3181C9A8A8 |
0.35 |
|
| 2010 |
Yeung WL, Lam CW, Ng PC. Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations. Developmental Medicine and Child Neurology. 52: e243-4. PMID 20370815 DOI: 10.1111/J.1469-8749.2010.03663.X |
0.362 |
|
| 2010 |
Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, Tuysuz B, Yanasse Dos Santos L, Taskiran E, de Fátima Turcato M, Lam CW, Reiss J, Walter M, Yalcinkaya C, Camelo Junior JS. Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. Brain & Development. 32: 544-9. PMID 19793632 DOI: 10.1016/J.Braindev.2009.09.005 |
0.388 |
|
| 2009 |
Hsiao HJ, Chang HH, Hwu WL, Lam CW, Lee NC, Chien YH. Glycogen storage disease type Ib: the first case in Taiwan. Pediatrics and Neonatology. 50: 125-8. PMID 19579760 DOI: 10.1016/S1875-9572(09)60048-6 |
0.344 |
|
| 2009 |
Yuen YP, Cheng WF, Tong SF, Chan YT, Chan YW, Lam CW. WITHDRAWN: Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. Molecular Genetics and Metabolism. PMID 19321372 DOI: 10.1016/S1096-7192(02)00057-4 |
0.329 |
|
| 2008 |
Chik KK, Chan CW, Lam CW, Ng KL. Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the glutamate dehydrogenase 1 gene. Journal of Paediatrics and Child Health. 44: 517-9. PMID 18928469 DOI: 10.1111/J.1440-1754.2008.01361.X |
0.329 |
|
| 2008 |
Lam CW, Kong AP, Tsui TK, Ozaki R, Chan HM, Tong SF, Siu TS, Tam S, Chan JC. A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome. Clinica Chimica Acta; International Journal of Clinical Chemistry. 398: 157-8. PMID 18760270 DOI: 10.1016/J.Cca.2008.08.005 |
0.373 |
|
| 2008 |
Mak CM, Lam CW, Lai ST, Hui Y, Tam S. Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure. Clinica Chimica Acta; International Journal of Clinical Chemistry. 398: 39-42. PMID 18760268 DOI: 10.1016/J.Cca.2008.08.002 |
0.327 |
|
| 2008 |
Mak CM, Lam CW. Diagnosis of Wilson's disease: a comprehensive review. Critical Reviews in Clinical Laboratory Sciences. 45: 263-90. PMID 18568852 DOI: 10.1080/10408360801991055 |
0.337 |
|
| 2008 |
Lau KC, Lam CW. Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient. Clinica Chimica Acta; International Journal of Clinical Chemistry. 392: 8-10. PMID 18331837 DOI: 10.1016/J.Cca.2008.02.009 |
0.343 |
|
| 2008 |
Mak CM, Lam CW, Tam S, Lai CL, Chan LY, Fan ST, Lau YL, Lai ST, Lai JY, Yuen P, Hui J, Fu CC, Wong KS, Mak WL, Tze K, et al. Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity. Journal of Human Genetics. 53: 55-63. PMID 18034201 DOI: 10.1007/S10038-007-0218-2 |
0.376 |
|
| 2007 |
Mak CM, Kwong YL, Lam CW, Chan SC, Lo CM, Fan ST, Chang CM, Lau YK, U LS, Tam S. Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese. Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis. 14: 293-7. PMID 17968690 DOI: 10.1080/13506120701616532 |
0.401 |
|
| 2007 |
Lam CW, Tong SF, Wong K, Luo YF, Tang HY, Ha SY, Chan MH. DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity. Journal of Human Genetics. 52: 98-101. PMID 17033731 DOI: 10.1007/S10038-006-0075-4 |
0.39 |
|
| 2006 |
Lam CW, Yan MS, Law TY, Tong SF, Orrico A, Galli L, Sorrentino V, Benedetti A. Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b. Clinica Chimica Acta; International Journal of Clinical Chemistry. 374: 147-8. PMID 16716283 DOI: 10.1016/J.Cca.2006.04.003 |
0.386 |
|
| 2006 |
Lam CW, Cheng AW, Poon WT, Yuen YP, Huen KF. Novel mutation, c.1234delA, in the DAX1 gene in congenital adrenal hypoplasia. Clinica Chimica Acta; International Journal of Clinical Chemistry. 374: 151-2. PMID 16698006 DOI: 10.1016/J.Cca.2006.03.021 |
0.368 |
|
| 2006 |
Yeung WL, Lam CW, Hui J, Tong SF, Wu SP. Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease. Brain & Development. 28: 389-91. PMID 16376043 DOI: 10.1055/S-2006-945712 |
0.403 |
|
| 2006 |
Lam CW, Cheung KM, Tsui MS, Yan MS, Lee CY, Tong SF. A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. Journal of Hepatology. 44: 240-2. PMID 16290310 DOI: 10.1016/J.Jhep.2005.09.013 |
0.39 |
|
| 2006 |
Poon WT, Au KM, Chan YW, Chan KY, Chow CB, Tong SF, Lam CW. Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia. Clinica Chimica Acta; International Journal of Clinical Chemistry. 364: 361-2. PMID 16236274 DOI: 10.1016/J.Cca.2005.09.018 |
0.38 |
|
| 2006 |
Lam CW, Yuen YP, Cheng WF, Chan YW, Tong SF. Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome. Clinica Chimica Acta; International Journal of Clinical Chemistry. 364: 256-9. PMID 16153625 DOI: 10.1016/J.Cca.2005.07.025 |
0.33 |
|
| 2005 |
Mok NS, Lo YK, Tsui PT, Lam CW. Ketoconazole induced torsades de pointes without concomitant use of QT interval-prolonging drug. Journal of Cardiovascular Electrophysiology. 16: 1375-7. PMID 16403073 DOI: 10.1111/J.1540-8167.2005.00299.X |
0.306 |
|
| 2005 |
Wong VCN, Lam CW, Fung CW. Stiff child syndrome with mutation of DYT1 gene Neurology. 65: 1465-1466. PMID 16275837 DOI: 10.1212/01.Wnl.0000183153.82651.72 |
0.35 |
|
| 2005 |
Lam CW, Lee KF, Chan AOK, Poon PMK, Law TY, Tong SF. Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia Clinica Chimica Acta. 360: 167-172. PMID 15963484 DOI: 10.1016/J.Cccn.2005.04.026 |
0.39 |
|
| 2005 |
Lam C, Chan AO, Tong S, Shek C, Tiu SC. DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroid hormone. Clinica Chimica Acta. 358: 55-59. PMID 15913586 DOI: 10.1016/J.Cccn.2005.02.014 |
0.32 |
|
| 2005 |
Lam CW, Cheung KK, Luk NM, Chan SW, Lo KK, Tong SF. DNA-based diagnosis of xeroderma pigmentosum group C by Whole-genome scan using single-nucleotide polymorphism microarray. The Journal of Investigative Dermatology. 124: 87-91. PMID 15654957 DOI: 10.1111/J.0022-202X.2004.23563.X |
0.431 |
|
| 2005 |
On-Kei Chan A, Lam CW, Tong SF, Man Tung C, Yung K, Chan YW, Au KM, Yuen YP, Hung CT, Ng KP, Shek CC. Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity. Clinica Chimica Acta; International Journal of Clinical Chemistry. 351: 155-9. PMID 15563885 DOI: 10.1016/J.Cccn.2004.09.004 |
0.421 |
|
| 2004 |
Lam CW, Lee AT, Lam YY, Wong TW, Mak TW, Fung WC, Chan KC, Ho CS, Tong SF. DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese. Molecular Genetics and Metabolism. 83: 271-5. PMID 15542399 DOI: 10.1016/J.Ymgme.2004.07.017 |
0.429 |
|
| 2002 |
Yuen YP, Cheng WF, Tong SF, Chan YT, Chan YW, Lam CW. Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. Molecular Genetics and Metabolism. 77: 249-51. PMID 12409273 DOI: 10.1016/S1096-7192(02)00110-5 |
0.421 |
|
| 2002 |
Chan LY, Lam CW, Mak YT, Tomlinson B, Tsang MW, Baum L, Masarei JR, Pang CP. Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia. Human Mutation. 20: 232-3. PMID 12204001 DOI: 10.1002/Humu.9054 |
0.388 |
|
| 2002 |
Lam CW, Li CK, Lai CK, Tong SF, Chan KY, Ng GS, Yuen YP, Cheng AW, Chan YW. DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography. Molecular Genetics and Metabolism. 75: 91-5. PMID 11825068 DOI: 10.1006/Mgme.2001.3267 |
0.377 |
|
| 2001 |
Lam CW, Yuen YP, Lai CK, Tong SF, Lau LK, Tong KL, Chan YW. Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation. 38: 1307-10. PMID 11728965 DOI: 10.1053/Ajkd.2001.29229 |
0.343 |
|
| 2001 |
Kong CK, Ko CH, Tong SF, Lam CW. Atypical presentation of dopa-responsive dystonia: generalized hypotonia and proximal weakness. Neurology. 57: 1121-4. PMID 11571350 DOI: 10.1212/Wnl.57.6.1121 |
0.359 |
|
| 2001 |
Lam CW, Hui KN, Poon PM, Luk NM, Yuen YP, Tong SF, Lai CK, Chan YW, Lo KK. Novel splicing mutation of the PPOX gene (IVS10 + 1G-->A) detected by denaturing high-performance liquid chromatography. Clinica Chimica Acta; International Journal of Clinical Chemistry. 305: 197-200. PMID 11249940 DOI: 10.1016/S0009-8981(01)00382-5 |
0.35 |
|
| 2001 |
Lam CW, Arlt W, Chan CK, Honour JW, Lin CJ, Tong SF, Choy KW, Miller WL. Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17 alpha-hydroxylase deficiency. Molecular Genetics and Metabolism. 72: 254-9. PMID 11243732 DOI: 10.1006/Mgme.2000.3134 |
0.372 |
|
| 2001 |
Lam CW, Poon PM, Tong SF, Ko CH. Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis. American Journal of Medical Genetics. 99: 161-3. PMID 11241479 DOI: 10.1002/1096-8628(2001)9999:9999<::Aid-Ajmg1145>3.0.Co;2-Z |
0.356 |
|
| 2001 |
Lam CW, Yang T, Tsang MW, Pang CP. Homoplasmic 3316G-->A in the ND1 gene of the mitochondrial genome: a pathogenic mutation or a neutral polymorphism? Journal of Medical Genetics. 38. PMID 11238687 DOI: 10.1136/Jmg.38.3.E10 |
0.311 |
|
| 2001 |
Lam C, Poon PM, Tong S, Lo AW, Lai C, Choi K, Tiu S, Chan Y, Shek C. Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC. Clinical Chemistry. 47: 343-346. DOI: 10.1093/Clinchem/47.2.343 |
0.432 |
|
| 2000 |
Lam CW, Sin SY, Lau ET, Lam YY, Poon P, Tong SF. Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography. Prenatal Diagnosis. 20: 765-8. PMID 11015710 DOI: 10.1002/1097-0223(200009)20:9<765::Aid-Pd893>3.0.Co;2-S |
0.397 |
|
| 2000 |
Orrico A, Lam CW, Galli L, Dotti MT, Hayek G, Tong SF, Poon PMK, Zappella M, Federico A, Sorrentino V. MECP2 mutation in male patients with non-specific X-linked mental retardation Febs Letters. 481: 285-288. PMID 11007980 DOI: 10.1016/S0014-5793(00)01994-3 |
0.336 |
|
| 2000 |
Lam CW, Chan KY, Tong SF, Chan BY, Chan YT, Chan YW. A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b Human Mutation. 16: 94. PMID 10874322 DOI: 10.1002/1098-1004(200007)16:1<94::Aid-Humu26>3.0.Co;2-Q |
0.362 |
|
| 1999 |
Galli L, Orrico A, Marcolongo P, Fulceri R, Burchell A, Melis D, Parini R, Gatti R, Lam C, Benedetti A, Sorrentino V. Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. Febs Letters. 459: 255-258. PMID 10518030 DOI: 10.1016/S0014-5793(99)01248-X |
0.413 |
|
| 1999 |
Law W, Choy K, Lam C. Novel Single Nucleotide Polymorphism (9678G→A) for Linkage Analysis of Acute Intermittent Porphyria Clinical Chemistry. 45: 308-309. DOI: 10.1093/Clinchem/45.2.308 |
0.322 |
|
| 1999 |
Lam C, Tong S, Lam Y, Chan B, Ma C, Lim P. Identification of a novel missense mutation (G149E) in the glucose-6-phosphate translocase gene in a Chinese family with glycogen storage disease 1b Human Mutation. 13: 507-507. DOI: 10.1002/(Sici)1098-1004(1999)13:6<507::Aid-Humu22>3.0.Co;2-5 |
0.358 |
|
| 1998 |
Wong L-C, Liang M, Hwu W, Lam C. Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene. Human Genetics. 103: 199-203. PMID 9760206 DOI: 10.1007/S004390050807 |
0.393 |
|
| 1998 |
Lam CW, But WM, Shek CC, Tong SF, Chan YS, Choy KW, Tse WY, Pang CP, Hjelm NM. Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a. Clinical Genetics. 53: 184-90. PMID 9630072 DOI: 10.1111/J.1399-0004.1998.Tb02674.X |
0.392 |
|
| 1997 |
Wong LC, Lam C. Alternative, Noninvasive Tissues for Quantitative Screening of Mutant Mitochondrial DNA Clinical Chemistry. 43: 1241-1243. DOI: 10.1093/Clinchem/43.7.1241 |
0.381 |
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