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Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Pode-Shakked, Naomi; Korman, Stanley H; Pode-Shakked, Ben; Landau, Yuval; Kneller, Katya; Abraham, Smadar; Shaag, Avraham; Ulanovsky, Igor; Daas, Suha; Saraf-Levy, Talya; Reznik-Wolf, Haike; Vivante, Asaf; Pras, Elon; Almashanu, Shlomo; Anikster, Yair.
Afiliación
  • Pode-Shakked N; Department of Pediatrics A, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Korman SH; Wilf Children's Hospital, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Pode-Shakked B; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Landau Y; Metabolic Disease Service, Day Care Department, Schneider Children's Medical Center of Israel, Petah Tikva, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Kneller K; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Abraham S; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Ulanovsky I; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Israel.
  • Daas S; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Israel.
  • Saraf-Levy T; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Israel.
  • Reznik-Wolf H; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
  • Vivante A; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel; Department of Pediatrics B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Pras E; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Almashanu S; National Newborn Screening Program, Ministry of Health, Tel-HaShomer, Israel.
  • Anikster Y; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: Yair.Aniks
Eur J Med Genet ; 63(6): 103901, 2020 Jun.
Article en En | MEDLINE | ID: mdl-32151765
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Pruebas Genéticas / Enfermedad de la Orina de Jarabe de Arce / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Israel
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Pruebas Genéticas / Enfermedad de la Orina de Jarabe de Arce / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Israel