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Inborn errors of metabolism and expanded newborn screening: review and update

Critical reviews in clinical laboratory sciences, 2013-11, Vol.50 (6), p.142-162

2013

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Aconite Poisoning over 5 Years: A Case Series in Hong Kong and Lessons Towards Herbal Safety

Drug safety, 2012-07, Vol.35 (7), p.575-587

2012

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Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese

Clinical genetics, 2020-05, Vol.97 (5), p.747-757

2020

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Quantification of aristolochic acid-derived DNA adducts in rat kidney and liver by using liquid chromatography–electrospray ionization mass spectrometry

Mutation research, 2008-11, Vol.646 (1), p.17-24

2008

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Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants

Journal of human genetics, 2011-08, Vol.56 (8), p.617-621

2011

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Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Journal of human genetics, 2008-01, Vol.53 (1), p.55-63

2008

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Analysis of inborn errors of metabolism： disease spectrum for expanded newborn screening in Hong Kong

Chinese medical journal, 2011-04, Vol.124 (7), p.983-989

2011

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Non-invasive screening of HLA-DPA1 and HLA-DPB1 alleles for persistent hepatitis B virus infection: Susceptibility for vertical transmission and toward a personalized approach for vaccination and treatment

Clinica chimica acta, 2011-05, Vol.412 (11-12), p.952-957

2011

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Simultaneous detection of 22 toxic plant alkaloids (aconitum alkaloids, solanaceous tropane alkaloids, sophora alkaloids, strychnos alkaloids and colchicine) in human urine and herbal samples using liquid chromatography–tandem mass spectrometry

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2013-12, Vol.942-943, p.63-69

2013

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A new approach for the sensitive determination of DNA adduct of aristolochic acid II by using high-performance liquid chromatography with fluorescence detection

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2009-04, Vol.877 (10), p.848-852

2009

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Phenylketonuria in Hong Kong Chinese： a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China

Chinese medical journal, 2011-08, Vol.124 (16), p.2556-2558

2011

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A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

Chinese medical journal, 2010-06, Vol.123 (11), p.1466-1469

2010

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Proteomics investigation on aristolochic acid nephropathy: a case study on rat kidney tissues

Analytical and bioanalytical chemistry, 2011-04, Vol.399 (10), p.3431-3439

2011

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Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area

Clinica chimica acta, 2021-10, Vol.521, p.40-44

2021

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Confirmation of Gelsemium Poisoning by Targeted Analysis of Toxic Gelsemium Alkaloids in Urine

Journal of analytical toxicology, 2009-01, Vol.33 (1), p.56-61

2009

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NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome

Clinica chimica acta, 2015-02, Vol.440, p.201-204

2015

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Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden-Spatz Syndrome

International journal of neuroscience, 2011-04, Vol.121 (4), p.224-227

2011

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Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis

Clinica chimica acta, 2011-01, Vol.412 (1), p.208-212

2011

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Molecular basis of von Hippel-Lindau syndrome in Chinese patients

Chinese medical journal, 2011-01, Vol.124 (2), p.237-241

2011

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Identification of a novel vardenafil analogue in herbal product

Journal of pharmaceutical and biomedical analysis, 2008-03, Vol.46 (4), p.804-807

2008

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Hyperekplexia: A Chinese Adolescent With 2 Novel Mutations of the GLRA1 Gene

Journal of child neurology, 2014-01, Vol.29 (1), p.111-113

2014

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Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study

Clinica chimica acta, 2012-01, Vol.413 (1-2), p.126-130

2012

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A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b

Human mutation, 2000-07, Vol.16 (1), p.94-94

2000

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A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy

Journal of Pediatric Endocrinology and Metabolism, 2012-02, Vol.25 (1-2), p.175-179

2012

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DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay

Clinica chimica acta, 2007, Vol.375 (1), p.171-172

2007

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Inborn errors of metabolism and expanded newborn screening: review and update

Aconite Poisoning over 5 Years: A Case Series in Hong Kong and Lessons Towards Herbal Safety

Clinical and pathological characterization of FLNC‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese

Quantification of aristolochic acid-derived DNA adducts in rat kidney and liver by using liquid chromatography–electrospray ionization mass spectrometry

Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants

Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity

Analysis of inborn errors of metabolism： disease spectrum for expanded newborn screening in Hong Kong

Non-invasive screening of HLA-DPA1 and HLA-DPB1 alleles for persistent hepatitis B virus infection: Susceptibility for vertical transmission and toward a personalized approach for vaccination and treatment

Simultaneous detection of 22 toxic plant alkaloids (aconitum alkaloids, solanaceous tropane alkaloids, sophora alkaloids, strychnos alkaloids and colchicine) in human urine and herbal samples using liquid chromatography–tandem mass spectrometry

A new approach for the sensitive determination of DNA adduct of aristolochic acid II by using high-performance liquid chromatography with fluorescence detection

Phenylketonuria in Hong Kong Chinese： a call for hyperphenylalaninemia newborn screening in the Special Administrative Region, China

A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

Proteomics investigation on aristolochic acid nephropathy: a case study on rat kidney tissues

Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area

Confirmation of Gelsemium Poisoning by Targeted Analysis of Toxic Gelsemium Alkaloids in Urine

NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome

Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden-Spatz Syndrome

Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis

Molecular basis of von Hippel-Lindau syndrome in Chinese patients

Identification of a novel vardenafil analogue in herbal product

Hyperekplexia: A Chinese Adolescent With 2 Novel Mutations of the GLRA1 Gene

Non-invasive urinary screening for aromatic l-amino acid decarboxylase deficiency in high-prevalence areas: A pilot study

A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b

A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy

DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay

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