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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
van Wegberg, Annemiek M J; Trefz, Friedrich; Gizewska, Maria; Ahmed, Sibtain; Chabraoui, Layachi; Zaki, Maha S; Maillot, François; van Spronsen, Francjan J.
Afiliação
  • van Wegberg AMJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.
  • Trefz F; Dietmar Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.
  • Gizewska M; Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases, and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
  • Ahmed S; Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.
  • Chabraoui L; Central Laboratory of Biochemistry, University Hospital Ibn Sina of Rabat, Rabat, Morocco; Faculty of Pharmacy, University Euromed of Fez, Fez, Morocco.
  • Zaki MS; Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Center, Cairo, Egypt.
  • Maillot F; Internal Medicine Department, University Hospital of Tours, UMR INSERM 1253 "iBrain", Tours, France.
  • van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: f.j.van.spronsen@umcg.nl.
J Pediatr ; 239: 231-234.e2, 2021 12.
Article em En | MEDLINE | ID: mdl-34474089
ABSTRACT
Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenilcetonúrias / Triagem Neonatal / Emigrantes e Imigrantes / Diagnóstico Tardio / Acessibilidade aos Serviços de Saúde Tipo de estudo: Diagnostic_studies Aspecto: Determinantes_sociais_saude Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenilcetonúrias / Triagem Neonatal / Emigrantes e Imigrantes / Diagnóstico Tardio / Acessibilidade aos Serviços de Saúde Tipo de estudo: Diagnostic_studies Aspecto: Determinantes_sociais_saude Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda