Showing results 1 to 5 of 5
Title | Author(s) | Issue Date | |
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A new presentation of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency - Dopa Responsive Dystonia (DRD) Proceeding/Conference:Journal of Inherited Metabolic Disease | 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 | ||
Reversible Myocardial Damage in a Premature Infant with Carnitine-Acylcarnitine Translocase Deficiency Proceeding/Conference:Hong Kong Journal of Paediatrics | 2004 |