OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria
- Author
- NEAS, K1 ; BENNETTS, B1 2 ; CARPENTER, K1 ; WHITE, R1 ; KIRK, E. P3 ; WILSON, M1 ; KELLEY, R4 ; BARIC, I5 ; CHRISTODOULOU, J1 2
[1] Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia
[2] School of Paediatrics and Child Health, University of Sydney, NSW, Australia
[3] School of Women's and Children's Health, University of NSW, and Department of Medical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia
[4] Kennedy Krieger Institute, Baltimore, Maryland, United States
[5] Department of Pediatrics, University Hospital Center, Zagreb, Croatia - Source
Journal of inherited metabolic disease. 2005, Vol 28, Num 4, pp 525-532, 8 p ; ref : 9 ref
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Dordrecht
- Publication country
- Netherlands
- Document type
- Article
- Language
- English
- Keyword (fr)
- Acidurie Dépistage Etat nutritionnel Génétique Homme Malade Mutation Métabolisme pathologie Nutrition Obésité Trouble nutrition
- Keyword (en)
- Aciduria Medical screening Nutritional status Genetics Human Patient Mutation Metabolic diseases Nutrition Obesity Nutrition disorder
- Keyword (es)
- Aciduria Descubrimiento Estado nutricional Genética Hombre Enfermo Mutación Metabolismo patología Nutrición Obesidad Trastorno nutricíon
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A16 Vertebrates: anatomy and physiology, studies on body, several organs or systems / 002A16E Feeding. Feeding behavior
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology Vertebrates : anatomy and physiology, studies on body, several organs or systems
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16852684
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/s10545-005-0525-8 
https://dx.doi.org/10.1007/s10545-005-0525-8
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