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A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child.
van den Heuvel, Lieke M; Kater-Kuipers, Adriana; van Dijk, Tessa; Crefcoeur, Loek L; Visser, Gepke; Langeveld, Mirjam; Henneman, Lidewij.
Afiliação
  • van den Heuvel LM; Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands.
  • Kater-Kuipers A; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.
  • van Dijk T; Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands.
  • Crefcoeur LL; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.
  • Visser G; Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit, Amsterdam, the Netherlands.
  • Langeveld M; Amsterdam Reproduction and Development research institute, Amsterdam, the Netherlands.
  • Henneman L; Wilhelmina Children's Hospital, Section Metabolic Diseases, University Medical Centre Utrecht, Utrecht, the Netherlands.
Orphanet J Rare Dis ; 18(1): 134, 2023 06 02.
Article em En | MEDLINE | ID: mdl-37268964

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Contexto em Saúde: 2_ODS3 Problema de saúde: 2_muertes_prematuras_enfermedades_notrasmisibles Assunto principal: Doenças Musculares / Cardiomiopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Qualitative_research / Screening_studies Limite: Female / Humans / Newborn Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Contexto em Saúde: 2_ODS3 Problema de saúde: 2_muertes_prematuras_enfermedades_notrasmisibles Assunto principal: Doenças Musculares / Cardiomiopatias Tipo de estudo: Diagnostic_studies / Prognostic_studies / Qualitative_research / Screening_studies Limite: Female / Humans / Newborn Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Holanda
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