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Changing pleural fluid triglyceride levels in cirrhotic chylothorax

Respirology case reports, 2022-03, Vol.10 (3), p.e0907-n/a

2022

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Thyroid Dysfunction in Relation to Immune Profile, Disease Status, and Outcome in 191 Patients with COVID-19

The journal of clinical endocrinology and metabolism, 2021-02, Vol.106 (2), p.e926-e935

2021

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C-terminal truncated SPOP, a Janus-faced variant, causing a mixed type 1 and type 2 Nabais Sa-de Vries syndrome

Clinica chimica acta, 2022-10, Vol.535, p.187-194

2022

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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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Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening

Clinica chimica acta, 2023-11, Vol.551, p.117621-117621, Article 117621

2023

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NMR-based urinalysis for beta-ketothiolase deficiency

Clinica chimica acta, 2015-01, Vol.438, p.222-225

2015

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Role of non‐thyroidal illness syndrome in predicting adverse outcomes in COVID‐19 patients predominantly of mild‐to‐moderate severity

Clinical endocrinology (Oxford), 2021-09, Vol.95 (3), p.469-477

2021

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Untargeted Mass Spectrometry-Based Metabolomic Profiling of Pleural Effusions: Fatty Acids as Novel Cancer Biomarkers for Malignant Pleural Effusions

Journal of proteome research, 2014-09, Vol.13 (9), p.4040-4046

2014

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Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

International journal of neonatal screening, 2024-03, Vol.10 (1), p.19

2024

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Global developmental delay and intellectual disability associated with a de novo TOP2B mutation

Clinica chimica acta, 2017-06, Vol.469, p.63-68

2017

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Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome

Clinica chimica acta, 2019-09, Vol.496, p.93-99

2019

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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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Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria

Clinica chimica acta, 2021-01, Vol.512, p.117-120

2021

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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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Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations

European journal of human genetics : EJHG, 2017-02, Vol.25 (2), p.192-199

2017

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Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy

Clinica chimica acta, 2019-10, Vol.497, p.88-94

2019

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Insights from a Prospective Follow-up of Thyroid Function and Autoimmunity among COVID-19 Survivors

Endocrinology and Metabolism, 2021, 36(3), , pp.582-589

2021

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Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion

Clinical toxicology (Philadelphia, Pa.), 2022-02, Vol.60 (2), p.255-258

2022

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Pleural Effusion Lipoproteins Measured by NMR Spectroscopy for Diagnosis of Exudative Pleural Effusions: A Novel Tool for Pore-Size Estimation

Journal of proteome research, 2014-09, Vol.13 (9), p.4104-4112

2014

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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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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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Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies

Clinica chimica acta, 2020-05, Vol.504, p.81-87

2020

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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, 2015-01, Vol.438, p.24-28

2015

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Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia

Pathology, 2022-06, Vol.54 (4), p.505-508

2022

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The Independent Association of TSH and Free Triiodothyronine Levels With Lymphocyte Counts Among COVID-19 Patients

Frontiers in endocrinology (Lausanne), 2022-01, Vol.12, p.774346-774346

2022

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Changing pleural fluid triglyceride levels in cirrhotic chylothorax

Thyroid Dysfunction in Relation to Immune Profile, Disease Status, and Outcome in 191 Patients with COVID-19

C-terminal truncated SPOP, a Janus-faced variant, causing a mixed type 1 and type 2 Nabais Sa-de Vries syndrome

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

Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening

NMR-based urinalysis for beta-ketothiolase deficiency

Role of non‐thyroidal illness syndrome in predicting adverse outcomes in COVID‐19 patients predominantly of mild‐to‐moderate severity

Untargeted Mass Spectrometry-Based Metabolomic Profiling of Pleural Effusions: Fatty Acids as Novel Cancer Biomarkers for Malignant Pleural Effusions

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism

Global developmental delay and intellectual disability associated with a de novo TOP2B mutation

Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome

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

Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria

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

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations

Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ10 deficiency: An underdiagnosed cause of mitochondriopathy

Insights from a Prospective Follow-up of Thyroid Function and Autoimmunity among COVID-19 Survivors

Serum ceruloplasmin monitoring in a case of silver intoxication due to intravenous silver infusion

Pleural Effusion Lipoproteins Measured by NMR Spectroscopy for Diagnosis of Exudative Pleural Effusions: A Novel Tool for Pore-Size Estimation

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

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

Centrosome-associated CDC25B is a novel disease-causing gene for a syndrome with cataracts, dilated cardiomyopathy, and multiple endocrinopathies

Quantitative metabolomics of urine for rapid etiological diagnosis of urinary tract infection: Evaluation of a microbial–mammalian co-metabolite as a diagnostic biomarker

Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia

The Independent Association of TSH and Free Triiodothyronine Levels With Lymphocyte Counts Among COVID-19 Patients

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