Lista de obras - Joannie Hui - Dominio Público Uruguay

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

artículo científico publicado en 2003

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2003

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

artículo científico publicado en 2006

Aplastic anaemia in association with Kearns-Sayre syndrome

artículo científico publicado en 1999

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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

artículo científico publicado en 2002

Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2001

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

artículo científico publicado en 2004

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

artículo científico

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 1999

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Ocular complications of paediatric patients with nephrotic syndrome

artículo científico publicado en 2001

One too many: intellectual disability secondary to undiagnosed phenylketonuria

artículo científico publicado en 2016

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

artículo científico publicado en 2001

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

artículo científico publicado en 2011

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

artículo científico publicado en 2003

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

article

Severe hypokalemic myopathy in Gitelman's syndrome

artículo científico publicado en 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

artículo científico publicado en 2002

Lista de obras de 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