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DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Çiki, Kismet; Yildiz, Yilmaz; Yücel Yilmaz, Didem; Pektas, Emine; Tokatli, Aysegül; Özgül, R Köksal; Sivri, H Serap; Dursun, Ali.
Afiliación
  • Çiki K; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. kismet.ciki@hacettepe.edu.tr.
  • Yildiz Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Yücel Yilmaz D; Department of Pediatric Metabolism, Institute of Child Health, Hacettepe University, Ankara, Turkey.
  • Pektas E; Pediatric Metabolic Diseases Unit, Gaziantep Cengiz Gökçek Maternity and Pediatrics Hospital, Gaziantep, Turkey.
  • Tokatli A; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Özgül RK; Department of Pediatric Metabolism, Institute of Child Health, Hacettepe University, Ankara, Turkey.
  • Sivri HS; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
  • Dursun A; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Metab Brain Dis ; 36(6): 1405-1410, 2021 08.
Article en En | MEDLINE | ID: mdl-34014443
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenilalanina / Proteínas del Choque Térmico HSP40 / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Prognostic_studies / Screening_studies Límite: Child / Female / Humans / Male / Newborn Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2021 Tipo del documento: Article País de afiliación: Turquía
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenilalanina / Proteínas del Choque Térmico HSP40 / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Prognostic_studies / Screening_studies Límite: Child / Female / Humans / Male / Newborn Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2021 Tipo del documento: Article País de afiliación: Turquía