Case Report
d-Glyceric acidaemia: clinical report and biochemical studies in a patient
C. Largillière,
C. Largillière
Service de Pédiatrie et Génétique Médicale, France
Search for more papers by this author E. Van Schaftingen,
E. Van Schaftingen
Laboratoire de Chimie Physiologique, Université Catholique de Louvain and International Institute of Cellular and Molecular Pathology, Bruxelles, 1200 Belgium
Search for more papers by this author M. Fontaine,
M. Fontaine
Laboratoire de Biochimie, Hôpital Hurlez, Centre Hospitalier Régional, Place de Verdun, Lille Cedex, 59037 France
Search for more papers by this author J. P. Farriaux,
J. P. Farriaux
Service de Pédiatrie et Génétique Médicale, France
Search for more papers by this author
C. Largillière,
C. Largillière
Service de Pédiatrie et Génétique Médicale, France
Search for more papers by this author E. Van Schaftingen,
E. Van Schaftingen
Laboratoire de Chimie Physiologique, Université Catholique de Louvain and International Institute of Cellular and Molecular Pathology, Bruxelles, 1200 Belgium
Search for more papers by this author M. Fontaine,
M. Fontaine
Laboratoire de Biochimie, Hôpital Hurlez, Centre Hospitalier Régional, Place de Verdun, Lille Cedex, 59037 France
Search for more papers by this author J. P. Farriaux,
J. P. Farriaux
Service de Pédiatrie et Génétique Médicale, France
Search for more papers by this author
First published: 01 March 1991
No abstract is available for this article.
References
- 1Bonham J. R., Stephenson T. J., Carpenter K. H., Rattenbury J. M., Cromby C. H., Pollitt R. J., Hull D. (1990) D(+)-glyceric aciduria: etiology and clinical consequences. Pediatr. Res., 28: 38–41.
- 2Fontaine M., Porchet N., Largillière C., Marrakchi S., Lhermitte M., Aubert J. P., Degand P. M. (1989) Biochemical contribution to diagnosis and study of a new case ofD-glyceric acidemia. Clin. Chem., 35: 2148–2151.
- 3Van Schaftingen E. (1989) D-glycerate kinase deficiency as a cause ofD-glyceric aciduria. FEBS Lett., 243: 127–131.
