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Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
Kranendijk, M; Salomons, G S; Gibson, K M; Aktuglu-Zeybek, C; Bekri, S; Christensen, E; Clarke, J; Hahn, A; Korman, S H; Mejaski-Bosnjak, V; Superti-Furga, A; Vianey-Saban, C; van der Knaap, M S; Jakobs, C; Struys, E A.
Afiliação
  • Kranendijk M; Metabolic Unit, Department of Clinical Chemistry, PK 1X 014, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.
  • Salomons GS; Metabolic Unit, Department of Clinical Chemistry, PK 1X 014, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.
  • Gibson KM; Department of Biological Sciences, Michigan Technological University, Houghton, MI, USA.
  • Aktuglu-Zeybek C; Division of Metabolic Diseases and Nutrition, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey.
  • Bekri S; Laboratoire de Biochimie Médicale, Rouen University Hospital, University of Rouen, Rouen, France.
  • Christensen E; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Clarke J; Division of Clinical Genetics, Hospital for Sick Children, Toronto, ON, Canada.
  • Hahn A; Department of Neuropediatrics, Justus-Liebig University, Giessen, Germany.
  • Korman SH; Department of Human Genetics and Metabolic Diseases, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.
  • Mejaski-Bosnjak V; Child Neurology, Children's Hospital Zagreb, University of Zagreb Medical School, Zagreb, Croatia.
  • Superti-Furga A; Department of Pediatrics, University of Freiburg, Freiburg, Germany.
  • Vianey-Saban C; Service Maladies Héréditaires du Métabolisme and INSERM U820, Centre de Biologie Est, CHU Lyon, France.
  • van der Knaap MS; Paediatric Neurology, VU University Medical Center, Amsterdam, The Netherlands.
  • Jakobs C; Metabolic Unit, Department of Clinical Chemistry, PK 1X 014, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands. c.jakobs@vumc.nl.
  • Struys EA; Metabolic Unit, Department of Clinical Chemistry, PK 1X 014, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.
J Inherit Metab Dis ; 32(6): 713, 2009 Dec.
Article em En | MEDLINE | ID: mdl-19821142
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Extratos Celulares / Encefalopatias Metabólicas Congênitas / Oxirredutases do Álcool / Ensaios Enzimáticos Tipo de estudo: Evaluation_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2009 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Extratos Celulares / Encefalopatias Metabólicas Congênitas / Oxirredutases do Álcool / Ensaios Enzimáticos Tipo de estudo: Evaluation_studies / Prognostic_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2009 Tipo de documento: Article