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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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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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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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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

Volltextzugriff (PDF)

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, Article 101019

2024

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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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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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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

Volltextzugriff (PDF)

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Nature communications, 2021-09, Vol.12 (1), p.5529-5529, Article 5529

2021

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Neuroimaging in Primary Coenzyme-Q[sub.10]-Deficiency Disorders

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

2023

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Neuroimaging in Primary Coenzyme-Q 10 -Deficiency Disorders

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

2023

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Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs

The Lancet regional health. Western Pacific, 2020-08, Vol.1, p.100001-100001, Article 100001

2020

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Correction: COG5-CDG: expanding the clinical spectrum

Orphanet journal of rare diseases, 2013-08, Vol.8 (1), p.120-120

2013

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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: e0126446

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

2015

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Erratum to: COG5-CDG: expanding the clinical spectrum

Orphanet journal of rare diseases, 2013-08, Vol.8 (1), Article 120

2013

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

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

2024

Volltextzugriff (PDF)

Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug

Case reports in pediatrics, 2022, Vol.2022, p.7414628-7414628

2022

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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, Vol.60 (1), p.15-22

2021

Volltextzugriff (PDF)

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

A fatal case of COQ7‐associated primary coenzyme Q10 deficiency

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

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

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

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

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

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

Stiff child syndrome with mutation of DYT1 gene

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Neuroimaging in Primary Coenzyme-Q[sub.10]-Deficiency Disorders

Neuroimaging in Primary Coenzyme-Q 10 -Deficiency Disorders

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs

Correction: COG5-CDG: expanding the clinical spectrum

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy: e0126446

Erratum to: COG5-CDG: expanding the clinical spectrum

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

Successful Treatment of Drug-Resistant Seizures Secondary to Ring 20 Mosaicism with Perampanel as an Add-On Antiepileptic Drug

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

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