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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

Annals of neurology, 2017-07, Vol.82 (1), p.133-138

2017

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Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Journal of inherited metabolic disease, 2021-11, Vol.44 (6), p.1489-1502

2021

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Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

JIMD reports, 2021-07, Vol.60 (1), p.15-22

2021

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Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy

PloS one, 2015-05, Vol.10 (5), p.e0126446-e0126446

2015

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A fatal case of COQ7‐associated primary coenzyme Q10 deficiency

JIMD reports, 2019-05, Vol.47 (1), p.23-29

2019

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Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome

PloS one, 2012-07, Vol.7 (7), p.e41802-e41802

2012

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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Npj genomic medicine, 2019-08, Vol.4 (1), p.18-11, Article 18

2019

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CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101023, Article 101023

2024

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Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

Human genomics, 2020-09, Vol.14 (1), p.28-28, Article 28

2020

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Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders

Antioxidants, 2023-03, Vol.12 (3), p.718

2023

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High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

Epilepsia open, 2021-12, Vol.6 (4), p.685-693

2021

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Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy

Epilepsia open, 2017-06, Vol.2 (2), p.236-243

2017

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Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey

Npj genomic medicine, 2018-08, Vol.3 (1), p.19-10, Article 19

2018

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Review of evolution of clinical, training and educational services and research program for autism spectrum disorders in Hong Kong

Science China. Life sciences, 2015-10, Vol.58 (10), p.991-1009

2015

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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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O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis

Genetics in Medicine Open, 2024, Vol.2, p.101019

2024

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Radboud Centre for Mitochondrial Medicine Pediatric MRI score

Mitochondrion, 2017-01, Vol.32, p.36-41

2017

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Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke

Clinica chimica acta, 2015-08, Vol.448, p.211-214

2015

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The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

Molecular genetics & genomic medicine, 2020-07, Vol.8 (7), p.e1229-n/a

2020

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COG5-CDG: expanding the clinical spectrum

Orphanet journal of rare diseases, 2012-12, Vol.7 (1), p.94-94, Article 94

2012

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Computerized attention training for visually impaired older adults with dementia: a case study

Dementia & neuropsychologia, 2020-12, Vol.14 (4), p.430-433

2020

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Nephrological abnormalities in patients with transaldolase deficiency

Nephrology, dialysis, transplantation, 2012-08, Vol.27 (8), p.3224-3227

2012

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A fatal case of COQ7 -associated primary coenzyme Q 10 deficiency

JIMD reports, 2019-05, Vol.47 (1), p.23-29

2019

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Stiff child syndrome with mutation of DYT1 gene

Neurology, 2005-11, Vol.65 (9), p.1465

2005

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A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome

Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy

A fatal case of COQ7‐associated primary coenzyme Q10 deficiency

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders

High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy

Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey

Review of evolution of clinical, training and educational services and research program for autism spectrum disorders in Hong Kong

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

O25: Bridging the neurodevelopmental diagnostic gap: A comprehensive multi-omics approach for transcriptomics and proteomics outliers with exome reanalysis

Radboud Centre for Mitochondrial Medicine Pediatric MRI score

Novel POLG mutation in a patient with sensory ataxia, neuropathy, ophthalmoparesis and stroke

The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

COG5-CDG: expanding the clinical spectrum

Computerized attention training for visually impaired older adults with dementia: a case study

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10

Nephrological abnormalities in patients with transaldolase deficiency

A fatal case of COQ7 -associated primary coenzyme Q 10 deficiency

Stiff child syndrome with mutation of DYT1 gene

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