Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency
- Author
- SALOMONS, G. S1 ; JAKOBS, C1 ; CHAMPION, M. P5 ; PECK, D6 ; GAVRILOV, D6 ; HILLMAN, R6 ; HOGANSON, G. E7 ; DONALDSON, K8 ; SHIELD, J. P. H9 ; KETTERIDGE, D10 ; WASSERSTEIN, M11 ; GIBSON, K. M12 ; LANDEGGE POPE, L1 ; ERRAMI, A2 ; POTTER, M3 ; NOWACZYK, M3 ; OLPIN, S4 ; MANNING, N4 ; RAIMAN, J. A. J5 ; SLADE, T5
[1] Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, Netherlands
[2] MRC-Holland, Amsterdam, Netherlands
[3] Hamilton Regional Laboratory Medicine Program, McMaster University Medical Centre, Hamilton, Ontario, Canada
[4] Neonatal Screening Laboratory, Sheffield Children's Hospital, Western Bank, Sheffield, United Kingdom
[5] Guy's Hospital, Metabolic Unit and Department of Paediatric Metabolic Medicine, London, United Kingdom
[6] Division of Medical Genetics, University of Missouri, Columbia, Missouri, United States
[7] Department of Pediatrics, University of Illinois, Chicago, Illinois, United States
[8] Regional Cytogenetics Centre, Southmead Hospital, Westbury on Trym, Bristol, United Kingdom
[9] University of Bristol and Bristol Royal Hospital for Children, Bristol, United Kingdom
[10] Department of Genetic Medicine, Women's & Children's Hospital, North Adelaide, South Australia, Australia
[11] Department of Human Genetics, Mt. Sinai School of Medicine, New York, New York, United States
[12] Division of Medical Genetics, Rangos Research Center Room 2111, Children's Hospital of Pittsburgh, 3460 Fifth Avenue, Pittsburgh, PA 15218, United States - Source
Journal of inherited metabolic disease. 2007, Vol 30, Num 1, pp 23-28, 6 p ; ref : 1 p.3/4
- 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)
- Coenzyme A Decarboxylase Déficit Génétique Homme Malade Maladie héréditaire Métabolisme pathologie Nutrition Séquence nucléotide Carbon-carbon lyases Carboxy-lyases Enzyme Lyases
- Keyword (en)
- Coenzyme A Decarboxylase Deficiency Genetics Human Patient Genetic disease Metabolic diseases Nutrition Nucleotide sequence Carbon-carbon lyases Carboxy-lyases Enzyme Lyases
- Keyword (es)
- Coenzima A Decarboxylase Déficiencia Genética Hombre Enfermo Enfermedad hereditaria Metabolismo patología Nutrición Secuencia nucleótido Carbon-carbon lyases Carboxy-lyases Enzima Lyases
- Classification
- Discipline
- Medical genetics Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18831254
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/s10545-006-0514-6 
https://dx.doi.org/10.1007/s10545-006-0514-6
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