Your browser doesn't support javascript.
loading
Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.
Hu, Liyan; Diez-Fernandez, Carmen; Rüfenacht, Véronique; Hismi, Burcu Öztürk; Ünal, Özlem; Soyucen, Erdogan; Çoker, Mahmut; Bayraktar, Bilge Tanyeri; Gunduz, Mehmet; Kiykim, Ertugrul; Olgac, Asburce; Pérez-Tur, Jordi; Rubio, Vicente; Häberle, Johannes.
Affiliation
  • Hu L; Division of Metabolism, University Children's Hospital, 8032 Zurich, Switzerland; Children's Research Center, 8032 Zurich, Switzerland; Neuroscience Center Zurich, University and ETH Zurich, Switzerland.
  • Diez-Fernandez C; Division of Metabolism, University Children's Hospital, 8032 Zurich, Switzerland; Children's Research Center, 8032 Zurich, Switzerland; Instituto de Biomedicina de Valencia (IBV-CSIC), Valencia, Spain.
  • Rüfenacht V; Division of Metabolism, University Children's Hospital, 8032 Zurich, Switzerland; Children's Research Center, 8032 Zurich, Switzerland.
  • Hismi BÖ; Department of Pediatric Metabolic Diseases, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey; Gaziantep Children's Hospital, Gaziantep, Turkey.
  • Ünal Ö; Department of Pediatric Metabolic Diseases, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey; Erzurum Regional Training and Research Hospital, Erzurum, Turkey.
  • Soyucen E; Department of Pediatric Metabolic Disease, Medical School, Akdeniz University, Antalya, Turkey.
  • Çoker M; Department of Pediatric Metabolic Disease, Medical School, Ege University, Bornova, Izmir, Turkey.
  • Bayraktar BT; Division of Neonatology, Department of Pediatrics, Bezmialem Vakif University, Istanbul, Turkey.
  • Gunduz M; Ankara Cocuk Sagligi ve Hastaliklari, Cocuk Beslenme & Metabolizma Unitesi, Diskapi, Ankara, Turkey.
  • Kiykim E; Department of Pediatric Metabolic Diseases, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Olgac A; Division of Metabolism and Nutrition, Gazi University Hospital, Ankara, Turkey.
  • Pérez-Tur J; Instituto de Biomedicina de Valencia (IBV-CSIC), Valencia, Spain; Centro de Investigación Biomédica en Red para Enfermedades Neurodegenerativas (CIBERNED-ISCIII), Valencia, Spain; Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
  • Rubio V; Instituto de Biomedicina de Valencia (IBV-CSIC), Valencia, Spain; Group 739, Centro de Investigación Biomédica en Red para Enfermedades Raras (CIBERER-ISCIII), Valencia, Spain.
  • Häberle J; Division of Metabolism, University Children's Hospital, 8032 Zurich, Switzerland; Children's Research Center, 8032 Zurich, Switzerland; Neuroscience Center Zurich, University and ETH Zurich, Switzerland. Electronic address: Johannes.Haeberle@kispi.uzh.ch.
Mol Genet Metab ; 113(4): 267-73, 2014 Dec.
Article in En | MEDLINE | ID: mdl-25410056
Subject(s)
Key words
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carbamoyl-Phosphate Synthase (Ammonia) / Sequence Deletion / Carbamoyl-Phosphate Synthase I Deficiency Disease Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male / Newborn Country/Region as subject: Asia Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2014 Type: Article Affiliation country: Switzerland
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carbamoyl-Phosphate Synthase (Ammonia) / Sequence Deletion / Carbamoyl-Phosphate Synthase I Deficiency Disease Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male / Newborn Country/Region as subject: Asia Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2014 Type: Article Affiliation country: Switzerland