British Inherited Metabolic Disease Group

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106

British Inherited Metabolic Disease Group - 最新文献

99 Opportunities to improve screening programmes identifying patients with aromatic L-amino acid decarboxylase deficiency (AADCd) in the UK

Pub Date : 2023-06-19 DOI: 10.1136/archdischild-2023-rcpch.274 V. Gowda, Sam Amin, M. Monaghan, C. de Goede, E. Strehle, Micheal Taylor, Emily Fox

200 Do doctors know what they do not know about inborn errors of metabolism

Pub Date : 2023-06-19 DOI: 10.1136/archdischild-2023-rcpch.275 Duygu Özbek Siddiqui, L. Tümer

218 Expanded new born screening (eNBS) panel for Sri Lanka: stakeholder opinion

Pub Date : 2023-06-19 DOI: 10.1136/archdischild-2023-rcpch.276 Chamal Palingu Imalke Kankanan Arachchige, Dimuthu Liyanage, U. Egodage, Lanka Dassanayake, Dileni Aishwarya Gunarathna, S. Amarasena, M. Hettiarachchi

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