Your browser doesn't support javascript.
loading
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.
la Marca, Giancarlo; Canessa, Clementina; Giocaliere, Elisa; Romano, Francesca; Malvagia, Sabrina; Funghini, Silvia; Moriondo, Maria; Valleriani, Claudia; Lippi, Francesca; Ombrone, Daniela; Della Bona, Maria Luisa; Speckmann, Carsten; Borte, Stephan; Brodszki, Nicholas; Gennery, Andrew R; Weinacht, Katja; Celmeli, Fatih; Pagel, Julia; de Martino, Maurizio; Guerrini, Renzo; Wittkowski, Helmut; Santisteban, Ines; Bali, Pawan; Ikinciogullari, Aydan; Hershfield, Michael; Notarangelo, Luigi D; Resti, Massimo; Azzari, Chiara.
Afiliação
  • la Marca G; Newborn Screening, Biochemistry and Pharmacology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy.
  • Canessa C; Meyer Children's University Hospital, Florence, Italy; Department of Health Sciences, University of Florence, Florence, Italy.
  • Giocaliere E; Newborn Screening, Biochemistry and Pharmacology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy.
  • Romano F; Meyer Children's University Hospital, Florence, Italy; Department of Health Sciences, University of Florence, Florence, Italy.
  • Malvagia S; Newborn Screening, Biochemistry and Pharmacology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy.
  • Funghini S; Newborn Screening, Biochemistry and Pharmacology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy.
  • Moriondo M; Meyer Children's University Hospital, Florence, Italy; Department of Health Sciences, University of Florence, Florence, Italy.
  • Valleriani C; Meyer Children's University Hospital, Florence, Italy; Department of Health Sciences, University of Florence, Florence, Italy.
  • Lippi F; Meyer Children's University Hospital, Florence, Italy; Department of Health Sciences, University of Florence, Florence, Italy.
  • Ombrone D; Newborn Screening, Biochemistry and Pharmacology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy.
  • Della Bona ML; Newborn Screening, Biochemistry and Pharmacology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Florence, Italy; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy.
  • Speckmann C; Zentrum fur Kinderheilkunde und Jugendmedizin, Centrum fuer Chronische, Immundefizienz-Universitaet Freiburg, Freiburg, Germany.
  • Borte S; Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden; Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany.
  • Brodszki N; Department of Allergy and Immunology, Children's Hospital Lund, Skane University Hospital, Lund, Sweden.
  • Gennery AR; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Weinacht K; Division of Hematology and Oncology, Children's Hospital, Boston, Mass; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Mass.
  • Celmeli F; Antalya Education and Research Hospital, Pediatric Immunology and Allergy, Antalya, Turkey.
  • Pagel J; Pädiatrische Hämatologie und Onkologie, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Lübeck, Germany; Department of General Pediatrics, University Children's Hospital Muenster, Münster, Germany.
  • de Martino M; Meyer Children's University Hospital, Florence, Italy; Department of Health Sciences, University of Florence, Florence, Italy.
  • Guerrini R; Newborn Screening, Biochemistry and Pharmacology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Florence, Italy.
  • Wittkowski H; Pediatric Rheumatology and Immunology, University Children's Hospital Muenster, Münster, Germany.
  • Santisteban I; Department of Medicine, Duke University, Medical Center, Durham, NC.
  • Bali P; Department of Medicine, Duke University, Medical Center, Durham, NC.
  • Ikinciogullari A; Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara, Turkey.
  • Hershfield M; Department of Medicine, Duke University, Medical Center, Durham, NC.
  • Notarangelo LD; Division of Immunology, Children's Hospital, Boston, Mass.
  • Resti M; Meyer Children's University Hospital, Florence, Italy; Department of Health Sciences, University of Florence, Florence, Italy.
  • Azzari C; Meyer Children's University Hospital, Florence, Italy; Department of Health Sciences, University of Florence, Florence, Italy. Electronic address: chiara.azzari@unifi.it.
J Allergy Clin Immunol ; 134(1): 155-9, 2014 Jul.
Article em En | MEDLINE | ID: mdl-24767876
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Erros Inatos do Metabolismo da Purina-Pirimidina / Purina-Núcleosídeo Fosforilase / Síndromes de Imunodeficiência / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Erros Inatos do Metabolismo da Purina-Pirimidina / Purina-Núcleosídeo Fosforilase / Síndromes de Imunodeficiência / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Itália