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D-glyceric Acidemia - Clinical Report and Biochemical-studies in a Patient
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Document type | Article de périodique (Journal article) – Article de recherche |
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Access type | Accès restreint |
Publication date | 1991 |
Language | Anglais |
Journal information | "Journal of Inherited Metabolic Disease" - Vol. 14, no. 2, p. 263-264 (1991) |
Peer reviewed | yes |
Publisher | Kluwer Academic Publ (Dordrecht) |
issn | 0141-8955 |
e-issn | 1573-2665 |
Publication status | Publié |
Affiliation | UCL - MD/BICL - Département de biochimie et de biologie cellulaire |
Links |
- Bonham, J. R., Stephenson, T. J., Carpenter, K. H., Rattenbury, J. M., Cromby, C. H., Pollitt, R. J. and Hull, D.D(+)-glyceric aciduria: etiology and clinical consequences.Pediatr. Res. 28 (1990) 38–41
- Fontaine, M., Porchet, N., Largillière, C., Marrakchi, S., Lhermitte, M., Aubert, J. P. and Degand, P. M. Biochemical contribution to diagnosis and study of a new case ofD-glyceric acidemia.Clin. Chem. 35 (1989) 2148–2151
- Van Schaftingen, E.D-glycerate kinase deficiency as a cause ofD-glyceric aciduria.FEBS Lett. 243 (1989) 127–131
Bibliographic reference | Largilliere, C. ; Van Schaftingen, Emile ; Fontaine, M. ; Farriaux, J. P.. D-glyceric Acidemia - Clinical Report and Biochemical-studies in a Patient. In: Journal of Inherited Metabolic Disease, Vol. 14, no. 2, p. 263-264 (1991) |
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Permanent URL | http://hdl.handle.net/2078.1/51064 |