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Autor
Bandeira, Anabela 1 Baumgartner, Matthias R 1 Benoist, Jean-Francois 1 Blom, Henk 1 Burlina, Alberto 1 Cerone, Roberto 1 Couce, Maria L 1 Diodato, Daria 1 Dionisi-Vici, Carlo 1 Garcia-Cazorla, Angeles 1 Huemer, Martina 1 Kožich, Viktor 1 Pasquini, Elisabetta 1 Schiff, Manuel 1 Schwahn, Bernd 1 Vilarinho, Laura 1 Weisfeld-Adams, James D 1 la Marca, Giancarlo 1
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Pracoviště
Congenital Metabolic Diseases Unit Ho... 1 Department of Experimental and Clinic... 1 Department of Neurology Neurometaboli... 1 Division of Inherited Metabolic Disea... 1 Division of Metabolism Bambino Gesù C... 1 Division of Metabolism and Children's... 1 Division of Metabolism and Children's... 1 Institute of Inherited Metabolic Diso... 1 Laboratory of Clinical Biochemistry a... 1 Metabolic Unit Centro Hospitalar do P... 1 Metabolic and Newborn Screening Clini... 1 Newborn Screening Metabolism and Gene... 1 Reference Center for Inborn Errors of... 1 Reference Center for Inborn Errors of... 1 Section of Clinical Genetics and Meta... 1 University Dept of Pediatrics Giannin... 1 Willink Biochemical Genetics Unit Sai... 1
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Autor
Bandeira, Anabela 1 Baumgartner, Matthias R 1 Benoist, Jean-Francois 1 Blom, Henk 1 Burlina, Alberto 1 Cerone, Roberto 1 Couce, Maria L 1 Diodato, Daria 1 Dionisi-Vici, Carlo 1 Garcia-Cazorla, Angeles 1 Huemer, Martina 1 Kožich, Viktor 1 Pasquini, Elisabetta 1 Schiff, Manuel 1 Schwahn, Bernd 1 Vilarinho, Laura 1 Weisfeld-Adams, James D 1 la Marca, Giancarlo 1
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Pracoviště
Congenital Metabolic Diseases Unit Ho... 1 Department of Experimental and Clinic... 1 Department of Neurology Neurometaboli... 1 Division of Inherited Metabolic Disea... 1 Division of Metabolism Bambino Gesù C... 1 Division of Metabolism and Children's... 1 Division of Metabolism and Children's... 1 Institute of Inherited Metabolic Diso... 1 Laboratory of Clinical Biochemistry a... 1 Metabolic Unit Centro Hospitalar do P... 1 Metabolic and Newborn Screening Clini... 1 Newborn Screening Metabolism and Gene... 1 Reference Center for Inborn Errors of... 1 Reference Center for Inborn Errors of... 1 Section of Clinical Genetics and Meta... 1 University Dept of Pediatrics Giannin... 1 Willink Biochemical Genetics Unit Sai... 1
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Huemer, Martina
Autor Huemer, Martina Division of Metabolism and Children's Research Center, University Childrens' Hospital Zürich, Zurich, Switzerland. radiz - Rare Disease Initiative Zürich, Clinical Research Priority Program, University of Zürich, Zurich, Switzerland. Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria
- Diodato, Daria
- Schwahn, Bernd
- Schiff, Manuel
- Bandeira, Anabela
- Benoist, Jean-Francois
- Burlina, Alberto
- Cerone, Roberto
- Couce, Maria L
- Garcia-Cazorla, Angeles
Medline Complete (EBSCOhost) od 2009-08-01 do Před 1 rokem
Health & Medicine (ProQuest) od 1999-02-01 do 2018-11-30
PubMed
27905001
DOI
10.1007/s10545-016-9991-4
Knihovny.cz E-zdroje
BACKGROUND: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions. OBJECTIVE: To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management. DATA SOURCES: Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach. KEY RECOMMENDATIONS: We strongly recommend measuring plasma total homocysteine in any patient presenting with the combination of neurological and/or visual and/or haematological symptoms, subacute spinal cord degeneration, atypical haemolytic uraemic syndrome or unexplained vascular thrombosis. We strongly recommend to initiate treatment with parenteral hydroxocobalamin without delay in any suspected remethylation disorder; it significantly improves survival and incidence of severe complications. We strongly recommend betaine treatment in individuals with MTHFR deficiency; it improves the outcome and prevents disease when given early.
- MeSH
- homocystein genetika MeSH
- lidé MeSH
- methionin genetika MeSH
- methylentetrahydrofolátreduktasa (NADPH2) nedostatek MeSH
- metylace účinky léků MeSH
- protoonkogenní proteiny c-cbl nedostatek MeSH
- vitamin B 12 farmakologie terapeutické užití MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
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