Cerebrospinal fluid organic acids in biotinidase deficiency

Author:

Duran M.,Baumgartner E. R.,Suormala T. M.,Bruinvis L.,Dorland L.,Smeitink J. A. M.,Poll-The B. T.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference8 articles.

1. Baumgartner ER, Suormala TM, Wick H et al (1989) Biotinidase deficiency: A cause of subacute necrotizing encephalomyelopathy (Leigh Syndrome). Report of a case with lethal outcome.Pediatr Res 26: 206?266.

2. Baumgartner ER, Suormala TM, Wiesmann U, Pegel M, Niederhoff H, Lehnert W (1991) Isolated biotin-resistant beta-methylcrotonyl-CoA carboxylase deficiency: a severe disease.Abstracts 29th Annual SSIEM Symposium p. 130.

3. Coude M, Kamoun P (1992) Organic acids in post-mortem cerebrospinal fluid.Clin Chim Acta 206: 201?206.

4. Diamantopoulos N, Painter MJ, Wolf B, Heard GS, Roe C (1986) Biotinidase deficiency: accumulation of lactate in the brain and response to biotin therapy.Neurology 36: 1107?1107.

5. Di Rocco M, Superti-Furga A, Durand P et al (1984) Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.J Inher Metab Dis 7 (Suppl 2): 119?120.

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