A novel mutation in LMBRD1 causes the cblF defect of vitamin B12 metabolism in a Turkish patient
- Author
- GAILUS, Susann1 ; SUORMALA, Terttu5 ; MALERCZYK-AKTAS, Ayse Gül6 ; TOLIAT, Mohammad R8 ; WITTKAMPF, Tanja1 ; STUCKI, Martin2 3 ; NÜRNBERG, Peter4 8 ; FOWLER, Brian5 ; HENNERMANN, Julia B7 ; RUTSCH, Frank1
[1] Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany
[2] Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zürich, Switzerland
[3] Zürich Center for Integrative Human Physiology (ZIHP), University of Zürich, Zürich, Switzerland
[4] Cologne Excellence Cluster on Cellular Stress Response in Aging-associated Diseases (CECAD), University of Cologne, Cologne, Germany
[5] Metabolic Unit, University Children's Hospital, Basel, Switzerland
[6] Department of General Pediatrics, University Hospital of Giessen and Marburg, Marburg, Germany
[7] Department of Pediatrics, Charité University Medical Center, Berlin, Germany
[8] Cologne Center for Genomics and Institute for Genetics, Cologne, Germany - Source
Journal of inherited metabolic disease. 2010, Vol 33, Num 1, pp 17-24, 8 p ; ref : 3/4 p
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Cause Cyanocobalamine Défaut Génétique Homme Malade Maladie héréditaire Maladie métabolique Mutation Métabolisme Nutrition Rétinol Turc Turquie Vitamine B Asie
- Keyword (en)
- Cause Cyanocobalamin Defect Genetics Human Patient Genetic disease Metabolic diseases Mutation Metabolism Nutrition Retinol Turkish Turkey B-Vitamins Asia
- Keyword (es)
- Causa Cianocobalamina Defecto Genética Hombre Enfermo Enfermedad hereditaria Metabolismo patología Mutación Metabolismo Nutrición Retinol Turco Turquía Vitamina B Asia
- Classification
- Discipline
- Medical genetics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22526383
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s10545-009-9032-7 
https://dx.doi.org/10.1007/s10545-009-9032-7
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