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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer, Martina; Mulder-Bleile, Regina; Burda, Patricie; Froese, D Sean; Suormala, Terttu; Zeev, Bruria Ben; Chinnery, Patrick F; Dionisi-Vici, Carlo; Dobbelaere, Dries; Gökcay, Gülden; Demirkol, Mübeccel; Häberle, Johannes; Lossos, Alexander; Mengel, Eugen; Morris, Andrew A; Niezen-Koning, Klary E; Plecko, Barbara; Parini, Rossella; Rokicki, Dariusz; Schiff, Manuel; Schimmel, Mareike; Sewell, Adrian C; Sperl, Wolfgang; Spiekerkoetter, Ute; Steinmann, Beat; Taddeucci, Grazia; Trejo-Gabriel-Galán, Jose M; Trefz, Friedrich; Tsuji, Megumi; Vilaseca, María Antònia; von Kleist-Retzow, Jürgen-Christoph; Walker, Valerie; Zeman, Jiri; Baumgartner, Matthias R; Fowler, Brian.
Afiliación
  • Huemer M; Division of Metabolism and Children's Research Center, University Childrens' Hospital Zürich, Zürich, Switzerland.
  • Mulder-Bleile R; radiz - Rare Disease Initiative Zürich, Clinical Research Priority Program, University of Zürich, Zürich, Switzerland.
  • Burda P; Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.
  • Froese DS; University Childrens' Hospital Basel (UKBB), Basel, Switzerland.
  • Suormala T; Division of Metabolism and Children's Research Center, University Childrens' Hospital Zürich, Zürich, Switzerland.
  • Zeev BB; Division of Metabolism and Children's Research Center, University Childrens' Hospital Zürich, Zürich, Switzerland.
  • Chinnery PF; Division of Metabolism and Children's Research Center, University Childrens' Hospital Zürich, Zürich, Switzerland.
  • Dionisi-Vici C; Edmond and Lilly Safra Pediatric Hospital, Sheba Med Center and Sackler School of Medicine Tel Aviv, Tel Aviv, Israel.
  • Dobbelaere D; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
  • Gökcay G; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Demirkol M; Centre de Référence Maladies Héréditaires du Métabolisme de l'enfant et de l'adulte, Hôpital Jeanne de Flandre, Lille, France.
  • Häberle J; Istanbul Medical Faculty, Children's Hospital, Pediatric Nutrition and Metabolism, Istanbul University, Istanbul, Turkey.
  • Lossos A; Istanbul Medical Faculty, Children's Hospital, Pediatric Nutrition and Metabolism, Istanbul University, Istanbul, Turkey.
  • Mengel E; Division of Metabolism and Children's Research Center, University Childrens' Hospital Zürich, Zürich, Switzerland.
  • Morris AA; Villa metabolica, Center for Pediatric and Adolescent Medicine, MC Johannes-Gutenberg-University Mainz, Mainz, Germany.
  • Niezen-Koning KE; Villa metabolica, Center for Pediatric and Adolescent Medicine, MC Johannes-Gutenberg-University Mainz, Mainz, Germany.
  • Plecko B; Willink Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, Manchester, UK.
  • Parini R; Laboratory Metabolic Diseases, University Medical Center Groningen, Groningen, The Netherlands.
  • Rokicki D; radiz - Rare Disease Initiative Zürich, Clinical Research Priority Program, University of Zürich, Zürich, Switzerland.
  • Schiff M; Division of Child Neurology and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.
  • Schimmel M; Unit for rare metabolic diseases, Department of Pediatrics, Fondazione MBBM/San Gerardo Hospital, Monza, Italy.
  • Sewell AC; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
  • Sperl W; Reference Center for Inborn Errors of Metabolism, Hôpital Robert Debré, APHP, INSERM U1141 and Université Paris-Diderot, Sorbonne Paris Cité, Paris, France.
  • Spiekerkoetter U; Children's Hospital Augsburg, Augsburg, Germany.
  • Steinmann B; Department of Paediatrics, University Children's Hospital, Frankfurt am Main, Germany.
  • Taddeucci G; Bioscientia Institute for Laboratory Diagnostics, Ingelheim, Germany.
  • Trejo-Gabriel-Galán JM; Department of Pediatrics, Paracelsus Medical University (PMU), Salzburg, Austria.
  • Trefz F; Department of General Pediatrics and Adolescent Medicine, University Children's Hospital, Freiburg, Germany.
  • Tsuji M; Division of Metabolism and Children's Research Center, University Childrens' Hospital Zürich, Zürich, Switzerland.
  • Vilaseca MA; Department of Pediatrics, Section of Paediatric Neurology, University of Pisa, Pisa, Italy.
  • von Kleist-Retzow JC; Neurology Department, Hospital Universitario de Burgos, Burgos, Spain.
  • Walker V; Department of Pediatrics, University of Heidelberg, Heidelberg, Germany.
  • Zeman J; Department of Neuroscience, Jikei University School of Medicine, Minato, Tokyo, Japan.
  • Baumgartner MR; Laboratori de Malalties Metabòliques Hereditàrias, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Fowler B; Department of Paediatrics, University of Cologne, Cologne, Germany.
J Inherit Metab Dis ; 39(1): 115-24, 2016 Jan.
Article en En | MEDLINE | ID: mdl-26025547
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Metilenotetrahidrofolato Reductasa (NADPH2) / Homocistinuria / Espasticidad Muscular Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Año: 2016 Tipo del documento: Article País de afiliación: Suiza
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Metilenotetrahidrofolato Reductasa (NADPH2) / Homocistinuria / Espasticidad Muscular Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Año: 2016 Tipo del documento: Article País de afiliación: Suiza