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Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
Staretz-Chacham, Orna; Shukrun, Rachel; Barel, Ortal; Pode-Shakked, Ben; Pleniceanu, Oren; Anikster, Yair; Shalva, Nechama; Ferreira, Carlos R; Ben-Haim Kadosh, Admit; Richardson, Justin; Mane, Shrikant M; Hildebrandt, Friedhelm; Vivante, Asaf.
Afiliação
  • Staretz-Chacham O; Metabolic Clinic, Pediatric Division, Soroka Medical Center, Ben-Gurion University, Be'er Sheva, Israel.
  • Shukrun R; Department of Neonatology, Soroka University Medical Center, Faculty of Health Sciences, School of Medicine, Ben-Gurion University of the Negev, Be'er Sheva, Israel.
  • Barel O; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.
  • Pode-Shakked B; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Pleniceanu O; The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Israel.
  • Anikster Y; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Shalva N; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.
  • Ferreira CR; Talpiot Medical Leadership Program, Department of Pediatrics B and Pediatric Nephrology Unit, Sheba Medical Center, Ramat-Gan, Israel.
  • Ben-Haim Kadosh A; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.
  • Richardson J; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Mane SM; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Hildebrandt F; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.
  • Vivante A; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat-Gan, Israel.
Am J Med Genet A ; 179(10): 2112-2118, 2019 10.
Article em En | MEDLINE | ID: mdl-31444901
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pirofosfatases / Trombocitopenia / Sistema Nervoso Central / Diester Fosfórico Hidrolases / Anormalidades Cardiovasculares / Calcificação Vascular / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn / Pregnancy Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pirofosfatases / Trombocitopenia / Sistema Nervoso Central / Diester Fosfórico Hidrolases / Anormalidades Cardiovasculares / Calcificação Vascular / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Female / Humans / Infant / Male / Newborn / Pregnancy Idioma: En Ano de publicação: 2019 Tipo de documento: Article