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PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Cavicchi, Catia; Oussalah, Abderrahim; Falliano, Silvia; Ferri, Lorenzo; Gozzini, Alessia; Gasperini, Serena; Motta, Serena; Rigoldi, Miriam; Parenti, Giancarlo; Tummolo, Albina; Meli, Concetta; Menni, Francesca; Furlan, Francesca; Daniotti, Marta; Malvagia, Sabrina; la Marca, Giancarlo; Chery, Céline; Morange, Pierre-Emmanuel; Tregouet, David; Donati, Maria Alice; Guerrini, Renzo; Guéant, Jean-Louis; Morrone, Amelia.
Afiliación
  • Cavicchi C; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Viale Pieraccini 24, 50139, Florence, Italy.
  • Oussalah A; INSERM, UMR_S1256 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), Nancy, France.
  • Falliano S; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Viale Pieraccini 24, 50139, Florence, Italy.
  • Ferri L; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Viale Pieraccini 24, 50139, Florence, Italy.
  • Gozzini A; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Viale Pieraccini 24, 50139, Florence, Italy.
  • Gasperini S; Rare Metabolic Disease Unit, Department of Paediatrics, Fondazione MBBM, Monza, Italy.
  • Motta S; Rare Metabolic Disease Unit, Department of Paediatrics, Fondazione MBBM, Monza, Italy.
  • Rigoldi M; Mario Negri Institute for Pharmacological Research IRCCS, Bergamo, Italy.
  • Parenti G; Metabolic Unit, Federico II Hospital, Napoli, Italy.
  • Tummolo A; Metabolic Disease Unit, Giovanni XXIII Hospital, Bari, Italy.
  • Meli C; Metabolic Disease Unit, G. Rodolico Hospital, Catania, Italy.
  • Menni F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Paediatric Highly Intensive Care Unit, Milan, Italy.
  • Furlan F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Paediatric Highly Intensive Care Unit, Milan, Italy.
  • Daniotti M; Metabolic and Muscular Unit, Meyer Children's Hospital, Florence, Italy.
  • Malvagia S; Newborn Screening, Biochemistry and Pharmacology Laboratory, Meyer Children's Hospital, Florence, Italy.
  • la Marca G; Newborn Screening, Biochemistry and Pharmacology Laboratory, Meyer Children's Hospital, Florence, Italy.
  • Chery C; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
  • Morange PE; INSERM, UMR_S1256 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, University of Lorraine and University Hospital Centre of Nancy (CHRU Nancy), Nancy, France.
  • Tregouet D; Aix-Marseille University, INRAE, INSERM, C2VN, Marseille, France.
  • Donati MA; INSERM, UMR_S937, ICAN Institute, Université Pierre et Marie Curie, Paris, France.
  • Guerrini R; Metabolic and Muscular Unit, Meyer Children's Hospital, Florence, Italy.
  • Guéant JL; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Viale Pieraccini 24, 50139, Florence, Italy.
  • Morrone A; Department of NEUROFARBA, University of Florence, Florence, Italy.
Clin Epigenetics ; 13(1): 137, 2021 07 02.
Article en En | MEDLINE | ID: mdl-34215320
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oxidorreductasas / Vitamina B 12 / Peroxirredoxinas / Errores Innatos del Metabolismo Tipo de estudio: Etiology_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Clin Epigenetics Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Oxidorreductasas / Vitamina B 12 / Peroxirredoxinas / Errores Innatos del Metabolismo Tipo de estudio: Etiology_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Clin Epigenetics Año: 2021 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Alemania