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Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.
Becker, Pierre-Hadrien; Demir, Zeynep; Mozer Glassberg, Yael; Sevin, Caroline; Habes, Dalila; Imbard, Apolline; Mussini, Charlotte; Rozenfeld Bar Lev, Michal; Davit-Spraul, Anne; Benoist, Jean-François; Thérond, Patrice; Slama, Abdelhamid; Jacquemin, Emmanuel; Gonzales, Emmanuel; Gaignard, Pauline.
Afiliação
  • Becker PH; Department of Biochemistry, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France; Lip(Sys)2, University of Paris-Saclay, Chatenay-Malabry, France.
  • Demir Z; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
  • Mozer Glassberg Y; Institute of Gastroenterology, Nutrition, and Liver Disease, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
  • Sevin C; Pediatric Neurology Unit, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France; INSERM U1127, Institut du Cerveau et de la Moelle épinière (ICM), Pitié-Salpêtrière Hospital, Pa
  • Habes D; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
  • Imbard A; Lip(Sys)2, University of Paris-Saclay, Chatenay-Malabry, France; Department of Metabolic Biochemistry, Necker Enfants Malades Hospital, University of Paris-Descartes, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Mussini C; Department of Pathology, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
  • Rozenfeld Bar Lev M; Institute of Gastroenterology, Nutrition, and Liver Disease, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
  • Davit-Spraul A; Department of Biochemistry, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France.
  • Benoist JF; Lip(Sys)2, University of Paris-Saclay, Chatenay-Malabry, France; Department of Metabolic Biochemistry, Necker Enfants Malades Hospital, University of Paris-Descartes, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Thérond P; Department of Biochemistry, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France; Lip(Sys)2, University of Paris-Saclay, Chatenay-Malabry, France.
  • Slama A; Department of Biochemistry, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
  • Jacquemin E; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, Fr
  • Gonzales E; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France; Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, Fr
  • Gaignard P; Department of Biochemistry, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France; Lip(Sys)2, University of Paris-Saclay, Chatenay-Malabry, France. Electronic address: pauline.g
Mol Genet Metab ; 132(1): 38-43, 2021 01.
Article em En | MEDLINE | ID: mdl-33309011
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Adenosina Quinase / Deficiências do Desenvolvimento / Epilepsia / Glicina N-Metiltransferase / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Child / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Adenosina Quinase / Deficiências do Desenvolvimento / Epilepsia / Glicina N-Metiltransferase / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Child / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2021 Tipo de documento: Article País de afiliação: França