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D-glyceric Acidemia - Clinical Report and Biochemical-studies in a Patient

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)
Permanent URL http://hdl.handle.net/2078.1/51064
  1. 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
  2. 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
  3. Van Schaftingen, E.D-glycerate kinase deficiency as a cause ofD-glyceric aciduria.FEBS Lett. 243 (1989) 127–131