A. Chan

发表

Reference intervals of urinary steroid metabolites using gas chromatography–mass spectrometry in Chinese adults

N. Taylor, A. Chan, S. Tiu, 2008, Steroids.

Significance of Size of Persistent/Recurrent Central Nodal Disease on Surgical Morbidity and Response to Therapy in Reoperative Neck Dissection for Papillary Thyroid Carcinoma.

B. Lang, A. Chan, C. Lo, 2017, Thyroid : official journal of the American Thyroid Association.

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

F. Bernier, J. Parboosingh, P. Bridge, 2005, Journal of Medical Genetics.

A patient with an increased troponin level without evidence of ischaemic cardiac injury.

K. L. Choi, A. Chan, C. Shek, 2004, Hong Kong medical journal = Xianggang yi xue za zhi.

Enzyme replacement therapy for infantile Pompe disease during the critical period and identification of a novel mutation.

S. H. Lee, A. Chan, W. But, 2009, Hong Kong medical journal = Xianggang yi xue za zhi.

Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.

D. Chitayat, M. Patel, J. Callahan, 1999, American journal of medical genetics.

Diagnosis of 5α–reductase 2 deficiency: is measurement of dihydrotestosterone essential?

A. Chan, P. Cheung, Cy Lee, 2013, International Journal of Pediatric Endocrinology.

A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia.

A. Chan, C. Shek, W. But, 2006, Clinica chimica acta; international journal of clinical chemistry.

Diagnosis of 5alpha-reductase 2 deficiency: a local experience.

A. Chan, C. Shek, B. But, 2009, Hong Kong medical journal = Xianggang yi xue za zhi.

Congenital adrenal hyperplasia presenting as a large adrenal incidentaloma in an elderly man

K. Lam, B. Lang, A. Chan, 2017, ANZ journal of surgery.

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.

F. Bamforth, P. Chakraborty, J. Callahan, 2007, Molecular genetics and metabolism.

Novel missense mutation in the CASR gene in a Chinese family with familial hypocalciuric hypercalcemia.

C. Lam, A. Chan, S. Tong, 2005, Clinica chimica acta; international journal of clinical chemistry.

The reference interval of thyroid-stimulating hormone in Hong Kong Chinese

A. Chan, C. Shek, Y. Iu, 2011, Journal of Clinical Pathology.

Autosomal dominant inheritance of spondyloenchondrodysplasia

A. Chan, J. Spranger, R. Bhargava, 2005, American journal of medical genetics. Part A.

Hyperandrogenism, Elevated 17-Hydroxyprogesterone and Its Urinary Metabolites in a Young Woman with Ovarian Steroid Cell Tumor, Not Otherwise Specified: Case Report and Review of the Literature

A. Chan, J. Chung, A. Kwan, 2019, Case reports in endocrinology.

A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality

N. van Alfen, B. Chung, E. Kamsteeg, 2018, Neuromuscular Disorders.

Reference intervals of common serum analytes of Hong Kong Chinese

A. Chan, C. Shek, J. Leung, 2008, Journal of Clinical Pathology.

A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI.

C. Lam, A. Chan, C. Shek, 2004, Chinese medical journal.

Reversible posterior leukoencephalopathy syndrome in a child with cerebral X-linked adrenoleukodystrophy treated with cyclosporine after bone marrow transplantation

A. Chan, R. Bhargava, S. Desai, 2003, Journal of Inherited Metabolic Disease.

Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients

R. Charlton, A. Chan, S. Tiu, 2011, Steroids.

Performance of in silico analysis in predicting the effect of non-synonymous variants in inherited steroid metabolic diseases

A. Chan, 2013, Steroids.

Use of urinary steroid profiling for diagnosing and monitoring adrenocortical tumours.

N. Taylor, A. Chan, S. Tiu, 2009, Hong Kong medical journal = Xianggang yi xue za zhi.

Urinary steroid profiling in the diagnosis of congenital adrenal hyperplasia and disorders of sex development: experience of a urinary steroid referral centre in Hong Kong.

A. Chan, C. Shek, 2013, Clinical Biochemistry.

Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.

A. Chan, C. Shek, K. Wong, 2015, Hong Kong medical journal = Xianggang yi xue za zhi.

Cryoglobulinaemia: clinical and laboratory perspectives.

A. Chan, C. Shek, C. Chan, 2008, Hong Kong medical journal = Xianggang yi xue za zhi.

Long-term outcome of kidney transplantation in a patient with coexisting lipoprotein glomerulopathy and fibrillary glomerulonephritis

A. Chan, C. Shek, K. Chau, 2014, Clinical kidney journal.

A rare cause of nephrotic syndrome: lipoprotein glomerulopathy.

A. Chan, C. Shek, K. Chau, 2009, Hong Kong medical journal = Xianggang yi xue za zhi.

A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.

You-Qiang Song, L. Chu, A. Chan, 2016, Journal of the Formosan Medical Association = Taiwan yi zhi.

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

T. Siu, S. Tam, C. Lam, 2011, Chinese medical journal.

Hypertriglyceridaemia-induced pancreatitis: a contributory role of capecitabine?

A. Chan, S. Tiu, C. Shek, 2012, Hong Kong medical journal = Xianggang yi xue za zhi.

Resistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene.

A. Kong, C. Lam, A. Chan, 2005, Hong Kong medical journal = Xianggang yi xue za zhi.

Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome.

A. Chan, C. Shek, K. F. Lee, 2013, Hong Kong medical journal = Xianggang yi xue za zhi.

Hyperammonaemic encephalopathy in an adult patient with citrin deficiency associated with a novel mutation.

A. Chan, S. Tiu, C. Shek, 2011, Hong Kong medical journal = Xianggang yi xue za zhi.

Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients

R. Charlton, A. Chan, S. Tiu, 2011, Steroids.

Novel presenilin 1 mutation (p.F386I) in a Chinese family with early-onset Alzheimer's disease

L. Chu, A. Chan, Y. Shea, 2017, Neurobiology of Aging.

Delayed diagnosis of an old Chinese woman with familial Alzheimer's disease.

L. Chu, A. Chan, Y. Shea, 2015, Journal of the Formosan Medical Association = Taiwan yi zhi.

New strategies for detecting steroid metabolic disorders--paneling vs profiling.

N. Taylor, A. Chan, 2012, Clinical chemistry.

A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.

You-Qiang Song, L. Chu, A. Chan, 2016, Journal of the Formosan Medical Association = Taiwan yi zhi.