Showing results 5 to 24 of 41
< previous
next >
Title | Author(s) | Issue Date | Views | |
---|---|---|---|---|
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 | 76 | ||
Two novel mutations of SMPD1 gene from a Chinese family with niemann pick disease type A (NPD-A) Proceeding/Conference:Hong Kong Medical Genetics Conference | 2005 | 89 | ||
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 | 36 | ||
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 | 144 | ||
A study of cerebrospinal fluid neurotransmitters assay in children with undiagnosed neurological diseases in Hong Kong Proceeding/Conference:Hong Kong Medical Journal | 2009 | 156 | ||
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 | 98 | ||
Spectrum of mitochondrial diseases in a tertiary referral centre in Hong Kong Proceeding/Conference:Developmental Medicine and Child Neurology | 2012 | 168 | ||
Spectrum of mitochondrial diseases in a tertiary referral centre in Hong Kong Proceeding/Conference:Hospital Authority Convention, HAC 2011 | 2011 | 72 | ||
Review of 17 children with cyclic vomiting syndrome Proceeding/Conference:Chinese Paediatric Forum | 1996 | 82 | ||
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 | 98 | ||
A rare cause of hepatosplenomegaly transaldolase deficiency Proceeding/Conference:Joint Annual Scientific Meeting for Paediatricians & Paediatric Nurses | 2007 | 107 | ||
A rare cause of hepatosplenomegaly - transaldolase deficiency Proceeding/Conference:Annual Symposium of Society for the Study of Inborn Errors of Metabolism, SSIEM 2007 | 2007 | 120 | ||
A rare cause of hepatosplenomegaly - transaldolase deficiency Proceeding/Conference:Journal of Inherited Metabolic Disease | 2007 | 137 | ||
A new presentation of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency - Dopa Responsive Dystonia (DRD) Proceeding/Conference:Journal of Inherited Metabolic Disease | 2007 | 148 | ||
Neuromuscular involvement in children with mitochondrial disease: A single centre experience Proceeding/Conference:14th Asian and Oceanian Congress of Child Neurology | 2017 | 26 | ||
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 | 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 | 168 | ||
Infantile convulsion choreoathetosis syndrome in a Hong Kong Chinese Family Proceeding/Conference:ACGA-HKSMG 2008 International Conference | 2008 | 124 | ||
Infantile convulsion choreoathetosis syndrome in a Hong Kong Chinese family Proceeding/Conference:Asian & Oceanian Epilepsy Congress, AOEC 2008 | 2008 | 128 | ||
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 | 18 |