Showing results 18 to 37 of 41
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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
Improving genetic diagnosis by whole exome sequencing in rare hereditary peripheral neuropathies Proceeding/Conference:Hong Kong College of Paediatricians 4th Annual Scientific Meeting cum 5th HK-Guangdong-Shanghai-Chongquing Paediatric Exchange Meeting | 2016 | 23 | ||
Infantile Convulsion Choreoathetosis Syndrome in a Hong Kong Chinese Family Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009 | 2009 | 181 | ||
Infantile convulsion choreoathetosis syndrome in a Hong Kong Chinese Family Proceeding/Conference:ACGA-HKSMG 2008 International Conference | 2008 | 130 | ||
Infantile convulsion choreoathetosis syndrome in a Hong Kong Chinese family Proceeding/Conference:Asian & Oceanian Epilepsy Congress, AOEC 2008 | 2008 | 157 | ||
Mutation of the LDHD gene in a Chinese girl with global developmental delay, transient hepatomegaly, hyperlactataemia and mitochondrial complex IV deficiency Proceeding/Conference:The 16th Conference of Asian Society for Mitochondrial Research and Medicine (ASMRM) & The 19th Conference of Japanese Society of Mitochondrial Research and Medicine (J-mit), 2019 | 2019 | 2 | ||
Neuromuscular involvement in children with mitochondrial disease: A single centre experience Proceeding/Conference:14th Asian and Oceanian Congress of Child Neurology | 2017 | 35 | ||
A new presentation of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency - Dopa Responsive Dystonia (DRD) Proceeding/Conference:Journal of Inherited Metabolic Disease | 2007 | 154 | ||
A rare cause of hepatosplenomegaly - transaldolase deficiency Proceeding/Conference:Annual Symposium of Society for the Study of Inborn Errors of Metabolism, SSIEM 2007 | 2007 | |||
A rare cause of hepatosplenomegaly - transaldolase deficiency Proceeding/Conference:Journal of Inherited Metabolic Disease | 2007 | 156 | ||
A rare cause of hepatosplenomegaly transaldolase deficiency Proceeding/Conference:Joint Annual Scientific Meeting for Paediatricians & Paediatric Nurses | 2007 | |||
A rare presentation of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency - Dopa Responsive Dystronia (DRD) Proceeding/Conference:Joint Annual Scientific Meeting for Paediatricians & Paediatric Nurses | 2007 | 108 | ||
Review of 17 children with cyclic vomiting syndrome Proceeding/Conference:Chinese Paediatric Forum | 1996 | 88 | ||
Spectrum of mitochondrial diseases in a tertiary referral centre in Hong Kong Proceeding/Conference:International Symposium on Epilepsy in Neurometabolic Diseases, ISENMD 2010 Proceedings | 2010 | 106 | ||
Spectrum of mitochondrial diseases in a tertiary referral centre in Hong Kong Proceeding/Conference:Developmental Medicine and Child Neurology | 2012 | |||
Spectrum of mitochondrial diseases in a tertiary referral centre in Hong Kong Proceeding/Conference:Hospital Authority Convention, HAC 2011 | 2011 | 79 | ||
A study of cerebrospinal fluid neurotransmitters assay in children with undiagnosed neurological diseases in Hong Kong Proceeding/Conference:International Symposium on Epilepsy in Neurometabolic Diseases, ISENMD 2010 Proceedings | 2010 | 155 | ||
A study of cerebrospinal fluid neurotransmitters assay in children with undiagnosed neurological diseases in Hong Kong Proceeding/Conference:Hong Kong Medical Journal | 2009 | 174 | ||
The KLHL40C.1516A>C is a Chinese-specific founder mutation in causing nemaline myopathy 8 Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, &
Hong Kong College of Paediatric Nursing | 2019 | |||
Two novel mutations of SMPD1 gene from a Chinese family with Niemann Pick Disease type A (NPD-A) Proceeding/Conference:HKPS-HKPNA 2006 Joint Annual Scientific Meeting | 2006 | 100 | ||
Two novel mutations of SMPD1 gene from a Chinese family with Niemann Pick Disease Type A (NPD-A) Proceeding/Conference:50th Anniversary Symposium on Paediatric Neurology & Neuro-Rehabilitation | 2005 | 79 |