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Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
Steg Saban, Or; Pode-Shakked, Ben; Abu-Libdeh, Bassam; Granot, Maya; Barkai, Galia; Haberman, Yael; Roterman, Inon; Lahad, Avishay; Shouval, Dror S; Weiss, Batia; Marek-Yagel, Dina; Barel, Ortal; Loberman-Nachum, Nurit; Abraham, Smadar; Somech, Raz; Weinstein, David A; Anikster, Yair.
Afiliación
  • Steg Saban O; Pediatrics Department B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Pode-Shakked B; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; The Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; Sackler Faculty of Medicine, Tel-Aviv
  • Abu-Libdeh B; Departments of Pediatrics and Genetics, Makassed Hospital and Al-Quds Medical School, East Jerusalem, Palestine.
  • Granot M; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Barkai G; Pediatrics Department B, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Pediatric Infectious 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
  • Haberman Y; The Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Cincinnati Children's Hospital Medical Center, Cincinnati, OH,
  • Roterman I; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Lahad A; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Shouval DS; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Weiss B; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Marek-Yagel D; 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.
  • Barel O; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel.
  • Loberman-Nachum N; Division of Pediatric Gastroenterology, Hepatology and Nutrition, 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.
  • Somech R; Pediatrics Department A, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Pediatric Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv
  • Weinstein DA; Glycogen Storage Disease Program, University of Connecticut School of Medicine (Farmington, CT), Connecticut Children's Medical Center, Hartford, CT, USA.
  • Anikster Y; 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; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel. Electronic address: Yair.Aniks
Eur J Med Genet ; 65(6): 104518, 2022 Jun.
Article en En | MEDLINE | ID: mdl-35550444
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo I / Glucosa-6-Fosfatasa Límite: Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo I / Glucosa-6-Fosfatasa Límite: Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Países Bajos