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Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants.
Pisciotta, Livia; Tozzi, Giulia; Travaglini, Lorena; Taurisano, Roberta; Lucchi, Tiziano; Indolfi, Giuseppe; Papadia, Francesco; Di Rocco, Maja; D'Antiga, Lorenzo; Crock, Patricia; Vora, Komal; Nightingale, Scott; Michelakakis, Helen; Garoufi, Anastasia; Lykopoulou, Lilia; Bertolini, Stefano; Calandra, Sebastiano.
Afiliación
  • Pisciotta L; Department of Internal Medicine, University of Genoa, Italy.
  • Tozzi G; Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Travaglini L; Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Taurisano R; Metabolism Division, Department of Pediatrics Specialist, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Lucchi T; Department of Internal Medicine and Medical Specialities, IRCSS Ca' Granda, Milan, Italy.
  • Indolfi G; Paediatric and Liver Unit, Meyer Children's University-Hospital, Florence, Italy.
  • Papadia F; University Pediatric Hospital Giovanni XXIII, O.U. Metabolic and Genetic Diseases, Bari, Italy.
  • Di Rocco M; IRCCS Institute Giannina Gaslini, Department of Pediatrics, Unit of Rare Diseases, Genoa, Italy.
  • D'Antiga L; Pediatric Department, Hospital Papa Giovanni XXIII, Bergamo, Italy.
  • Crock P; John Hunter Children Hospital, Discipline of Paediatrics and Child Health, University of Newcastle, Newcastle, Australia.
  • Vora K; John Hunter Children Hospital, Discipline of Paediatrics and Child Health, University of Newcastle, Newcastle, Australia.
  • Nightingale S; John Hunter Children Hospital, Discipline of Paediatrics and Child Health, University of Newcastle, Newcastle, Australia.
  • Michelakakis H; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
  • Garoufi A; 2nd Department of Pediatrics, National and Kapodistrian University of Athens, "P. & A. Kyriakou" Children's Hospital, Athens, Greece.
  • Lykopoulou L; 1st Department of Pediatrics, University of Athens, Aghia Sofia Children's Hospital, Athens, Greece.
  • Bertolini S; Department of Internal Medicine, University of Genoa, Italy. Electronic address: stefbert@unige.it.
  • Calandra S; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Italy. Electronic address: sebcal@unimore.it.
Atherosclerosis ; 265: 124-132, 2017 Oct.
Article en En | MEDLINE | ID: mdl-28881270
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Wolman / Esterol Esterasa / Polimorfismo de Nucleótido Simple / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies País/Región como asunto: Europa Idioma: En Revista: Atherosclerosis Año: 2017 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Imprimir
XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Wolman / Esterol Esterasa / Polimorfismo de Nucleótido Simple / Mutación Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies País/Región como asunto: Europa Idioma: En Revista: Atherosclerosis Año: 2017 Tipo del documento: Article País de afiliación: Italia