An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population.

Forman, E B; Lynch, S A; Knerr, I; Monavari, A; Hughes, J; Boruah, R; Green, A; Crushell, E

Forman, E B; Lynch, S A; Knerr, I; Monavari, A; Hughes, J; Boruah, R; Green, A; Crushell, E.

Afiliação

Forman EB; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Temple Street, Dublin 1, Ireland. forman.eva@gmail.com.
Lynch SA; European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), Dublin, Ireland. forman.eva@gmail.com.
Knerr I; Department of Clinical Genetics, Children's Health Ireland, Crumlin, Dublin 12, Ireland.
Monavari A; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
Hughes J; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Temple Street, Dublin 1, Ireland.
Boruah R; European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), Dublin, Ireland.
Green A; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Temple Street, Dublin 1, Ireland.

Eur J Pediatr ; 182(1): 31-40, 2023 Jan.

Article em En | MEDLINE | ID: mdl-36374302

Assuntos

Viagem; Humanos; Europa (Continente); Irlanda/epidemiologia

Palavras-chave

Consanguinity; Inborn errors of metabolism; Inherited metabolic disorders; Irish Travellers; Recessive disease

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Viagem Limite: Humans País/Região como assunto: Europa Idioma: En Revista: Eur J Pediatr Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Irlanda País de publicação: Alemanha

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