Showing results 18 to 30 of 30
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Title | Author(s) | Issue Date | |
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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 | ||
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 | ||
Review of 17 children with cyclic vomiting syndrome Proceeding/Conference:Chinese Paediatric Forum | 1996 | ||
Spectrum of mitochondrial diseases in a tertiary referral centre in Hong Kong Proceeding/Conference:Hospital Authority Convention, HAC 2011 | 2011 | ||
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 | ||
Spectrum of mitochondrial diseases in a tertiary referral centre in Hong Kong Proceeding/Conference:Developmental Medicine and Child Neurology | 2012 | ||
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 | ||
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 | ||
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 | ||
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 | ||
Video-Fluoroscopic Study of Swallowing (VFSS) in Children with Neurological Disorders Proceeding/Conference:International Congress of Pediatrics, IPA 2001 | 2001 |