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Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.
Dionisi-Vici, Carlo; Shteyer, Eyal; Niceta, Marcello; Rizzo, Cristiano; Pode-Shakked, Ben; Chillemi, Giovanni; Bruselles, Alessandro; Semeraro, Michela; Barel, Ortal; Eyal, Eran; Kol, Nitzan; Haberman, Yael; Lahad, Avishai; Diomedi-Camassei, Francesca; Marek-Yagel, Dina; Rechavi, Gideon; Tartaglia, Marco; Anikster, Yair.
Affiliation
  • Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy. carlo.dionisivici@opbg.net.
  • Shteyer E; Pediatric Gastroenterology Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
  • Niceta M; Genetics and Rare Disease Research Division, Bambino Gesù Children's Hospital, Rome, Italy.
  • Rizzo C; Division of Metabolism, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.
  • Pode-Shakked B; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Chillemi G; The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
  • Bruselles A; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Semeraro M; CINECA, SCAI-SuperComputing Applications and Innovation Department, Rome, Italy.
  • Barel O; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Eyal E; Division of Metabolism, Bambino Gesù Children's Hospital, Piazza S. Onofrio 4, 00165, Rome, Italy.
  • Kol N; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Haberman Y; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Lahad A; Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
  • Diomedi-Camassei F; The Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
  • Marek-Yagel D; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Rechavi G; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Tartaglia M; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Anikster Y; Division of Pathology, Bambino Gesù Children's Hospital, Rome, Italy.
J Inherit Metab Dis ; 39(5): 689-695, 2016 09.
Article in En | MEDLINE | ID: mdl-27368975

Full text: 1 Database: MEDLINE Main subject: Glycerolphosphate Dehydrogenase / Mutation Limits: Adolescent / Adult / Child / Child, preschool / Humans Language: En Journal: J Inherit Metab Dis Year: 2016 Type: Article Affiliation country: Italy

Full text: 1 Database: MEDLINE Main subject: Glycerolphosphate Dehydrogenase / Mutation Limits: Adolescent / Adult / Child / Child, preschool / Humans Language: En Journal: J Inherit Metab Dis Year: 2016 Type: Article Affiliation country: Italy