Joannie Hui
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View article: PROSPECTIVE SCREENING OF WILSON DISEASE IN PRIMARY SCHOOL CHILDREN USING SPOT URINE: AN UNFORESEEN SUCCESS IN CASE DIAGNOSIS IN A PILOT STUDY
PROSPECTIVE SCREENING OF WILSON DISEASE IN PRIMARY SCHOOL CHILDREN USING SPOT URINE: AN UNFORESEEN SUCCESS IN CASE DIAGNOSIS IN A PILOT STUDY Open
Background Wilson disease (WD) is a rare but commonly under-diagnosed inherited metabolic disease. Patients who are diagnosed early before disease onset (pre-symptomatic WD) have a good response to treatment. For universal screening in chi…
View article: Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey Open
Newborn screening (NBS) is an important public health program that aims to identify pre-symptomatic healthy babies that will develop significant disease if left undiagnosed and untreated. The number of conditions being screened globally is…
View article: The view of Hong Kong parents on secondary use of dried blood spots in newborn screening program
The view of Hong Kong parents on secondary use of dried blood spots in newborn screening program Open
Background Residual dried blood spots (rDBS) from newborn screening programmes represent a valuable resource for medical research, from basic sciences, through clinical to public health. In Hong Kong, there is no legislation for biobanking…
View article: Mitochondrial Diseases in Hong Kong: Prevalence, Clinical characteristics and Genetic landscape
Mitochondrial Diseases in Hong Kong: Prevalence, Clinical characteristics and Genetic landscape Open
Objective: To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region. Methods: This study retrospectively reviewed the pheno…
View article: The view of Hong Kong parents on secondary use of dried blood spots in newborn screening program
The view of Hong Kong parents on secondary use of dried blood spots in newborn screening program Open
Background Residual dried blood spots (rDBS) from newborn screening programmes represent a valuable resource for medical research, from basic sciences, through clinical to public health. In Hong Kong, there is no legislation for biobanking…
View article: Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad Open
A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns–Sayre syndrome (KSS) has come to represent patients with mitochondrial…
View article: Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene Open
Due to newborn screening for X-linked adrenoleukodystrophy (ALD), and the use of exome sequencing in clinical practice, the detection of variants of unknown significance (VUS) in the ABCD1 gene is increasing. In these cases, functional tes…
View article: Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population Open
Background Mitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous disorders characterized by defects in oxidative phosphorylation. Since clinical phenotypes of MDs may be non-specific, genetic diagnosis is cru…
View article: Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population Open
BackgroundMitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous disorders characterized by defects in oxidative phosphorylation. Since clinical phenotypes of MDs may be non-specific, genetic diagnosis is cruc…
View article: Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
Delineation of molecular findings by whole exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population Open
Background Mitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous disorders characterized by defects in oxidative phosphorylation. Since clinical phenotypes of MDs may be non-specific, genetic diagnosis is cru…
View article: Reference intervals of spot urine copper excretion in preschool children and potential application in pre-symptomatic screening of Wilson’s disease
Reference intervals of spot urine copper excretion in preschool children and potential application in pre-symptomatic screening of Wilson’s disease Open
Background With spot urine collected from a large control sample of preschool children (aged 3-7 years), reference range of spot urine copper excretion indexes and their biological variation were defined. Methods In order to investigate th…
View article: Issue Information
Issue Information Open
No abstract is available for this article.
View article: Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts Open
Clinical and MRI features did not distinguish between classic MLC with MLC1 or GLIALCAM mutations. Absence of signal abnormalities of the internal capsule and cerebellar white matter are MRI findings that point to the remitting phenotype.
View article: Expanded newborn metabolic screening programme in Hong Kong: a three-year journey
Expanded newborn metabolic screening programme in Hong Kong: a three-year journey Open
The Centre of Inborn Errors of Metabolism has established a comprehensive expanded newborn screening programme for selected inborn errors of metabolism. It sets a standard against which the performance of other private newborn screening te…
View article: One too many: intellectual disability secondary to undiagnosed phenylketonuria
One too many: intellectual disability secondary to undiagnosed phenylketonuria Open
Case reportHyperphenylalaninaemia refers to the clinical condition characterised by increased amounts of phenylalanine in blood and other tissues.It can result from either a deficiency of phenylalanine hydroxylase (PAH) or defects in synth…