List of works - Joannie Hui

3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.

scientific article

A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients

scientific article published in December 2016

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency

scientific article published on March 2003

A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectromet

scientific article published on 21 March 2007

A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity

scientific article

Abnormal expressions of the subunits of the UDP-N-acetylglucosamine: lysosomal enzyme, N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cells

scientific article published on 8 December 2006

Aplastic anaemia in association with Kearns-Sayre syndrome

scientific article published on 01 February 1999

Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese

scientific article published on 21 December 2009

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

scientific article

Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.

scientific article published on February 2006

Diagnosing Wilson's disease in a 5-year-old child

scientific article published in August 2002

Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency

scientific article published on 7 September 2010

First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene

scientific article published on 22 April 2010

Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease

scientific article published on 10 January 2006

Grading of acute and chronic renal lesions in Henoch-Schönlein purpura

scientific article published in July 2001

Infection control for SARS in a tertiary paediatric centre in Hong Kong

scientific article published in March 2004

Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations

scientific article published on August 2014

Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson's disease in Chinese children

scientific article published on 21 October 2013

Lupus nephritis in Chinese children – a territory-wide cohort study in Hong Kong

article

Membranous lupus nephritis in Chinese children--a case series and review of the literature.

scientific article published on 22 July 2009

Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III

scientific article published on 01 January 2002

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

scientific article (publication date: April 1999)

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

scientific article published on 3 March 2009

Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.

scientific article

Ocular complications of paediatric patients with nephrotic syndrome

scientific article

One too many: intellectual disability secondary to undiagnosed phenylketonuria.

scientific article

Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong.

scientific article

Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine.

scientific article

Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation

scientific article published on 01 June 1998

Red eyes as the initial presentation of systemic meningococcal infection

scientific article published on July 2003

Risk of Vitamin A Toxicity From Candy-Like Chewable Vitamin Supplements for Children

article

Severe hypokalemic myopathy in Gitelman's syndrome

scientific article published on 01 April 1999

The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient

article

Topical herbal medicine causing haemolysis in glucose-6-phosphate dehydrogenase deficiency

scientific article published in January 2002

List of works by Joannie Hui

3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib.

A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency

A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectromet

A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity

Abnormal expressions of the subunits of the UDP-N-acetylglucosamine: lysosomal enzyme, N-acetylglucosamine-1-phosphotransferase, result in the formation of cytoplasmic vacuoles resembling those of the I-cells

Aplastic anaemia in association with Kearns-Sayre syndrome

Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.

Decreased activities of mitochondrial respiratory chain complexes in non-mitochondrial respiratory chain diseases.

Diagnosing Wilson's disease in a 5-year-old child

Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency

First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene

Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease

Grading of acute and chronic renal lesions in Henoch-Schönlein purpura

Infection control for SARS in a tertiary paediatric centre in Hong Kong

Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations

Isolated persistent elevation of alanine transaminase for early diagnosis of pre-symptomatic Wilson's disease in Chinese children

Lupus nephritis in Chinese children – a territory-wide cohort study in Hong Kong

Membranous lupus nephritis in Chinese children--a case series and review of the literature.

Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.

Ocular complications of paediatric patients with nephrotic syndrome

One too many: intellectual disability secondary to undiagnosed phenylketonuria.

Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong.

Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine.

Primary plasmalemmal carnitine transporter defect manifested with dicarboxylic aciduria and impaired fatty acid oxidation

Red eyes as the initial presentation of systemic meningococcal infection

Risk of Vitamin A Toxicity From Candy-Like Chewable Vitamin Supplements for Children

Severe hypokalemic myopathy in Gitelman's syndrome

The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient

Topical herbal medicine causing haemolysis in glucose-6-phosphate dehydrogenase deficiency