Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway
- 1 May 2001
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 68 (5), 1086-1092
- https://doi.org/10.1086/320108
Abstract
No abstract availableThis publication has 8 references indexed in Scilit:
- The three‐dimensional structure of human transaldolaseFEBS Letters, 2000
- Leukoencephalopathy associated with a disturbance in the metabolism of polyolsAnnals of Neurology, 1999
- INITIAL ASSESSMENT OF HUMAN GENE DIVERSITY AND EXPRESSION PATTERNS BASED UPON 83-MILLION NUCLEOTIDES OF CDNA SEQUENCE1995
- Galactitol in galactosemiaEuropean Journal of Pediatrics, 1995
- Cloning and expression of the human gene for transaldolase. A novel highly repetitive element constitutes an integral part of the coding sequence.Online Journal of Public Health Informatics, 1994
- Quantitative analysis of polyols in human plasma and cerebrospinal fluidJournal of Chromatography B: Biomedical Sciences and Applications, 1989
- Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification methodClinica Chimica Acta; International Journal of Clinical Chemistry, 1986
- Measurement of protein using bicinchoninic acidAnalytical Biochemistry, 1985