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OBJECTIVE: To assess clinical presentation of inborn errors of metabolism in neonatal period and to identify challenges in their management. METHODS: This is a retrospective study carried out in the department of Intensive Care and Neonatal Medicine…

Pediatric pharmacotherapy is often challenging due to the paucity of available clinical data on the safety and efficacy of drugs that are commonly used in children. This quandary is even more prevalent in children with rare diseases. Although…

Since 1977, the WHO Model List of Essential Medicines (EML), published by WHO, has provided advice for Member States that struggle to decide which pharmaceutical technologies should be provided to patients within their public health systems.…

Rare disorders are scarcely represented in international classifications and therefore invisible in information systems. One of the major needs in health information systems and for research is to share and/or to integrate data coming from…

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