Zobrazeno 1 - 10
of 53
pro vyhledávání: '"C. H. M. M. de Bruyn"'
Publikováno v:
Clinical Genetics. 13:8-16
An unusual form of galactosemia is described in a 7-month-old boy, characterized by a late onset of the clinical symptoms. A high apparent residual activity of erythrocyte galactose-1-phosphate uridyl transferase (GT) was measured with the spectropho
Autor:
C. H. M. M. de Bruyn
Publikováno v:
Clinical Biochemistry. 16:38-42
A number of genetically determined enzyme defects leading to disturbances of purine metabolism can prenatally be monitored, and heterozygote detection is possible in several cases. In severe hypoxanthine-guanine phosphoribosyl transferase (HGPRT) def
Publikováno v:
Biochemical and Biophysical Research Communications. 71:574-578
A new method making use of a radiochemical enzyme assay at the single cell level is presented to investigate metabolic cooperation, a widely studied form of cellular communication. In this case metabolic cooperation between normal human fibroblasts a
Autor:
C. H. M. M. de Bruyn, G. Th. Spierenburg, Jan A.J.M. Bakkeren, J. P. R. M. van Laarhoven, E. D. A. M. Schretlen, S.J. Geerts, T. J. Schouten
Publikováno v:
Leukemia Research. 7:407-420
Adenosine deaminase (ADA), purine nucleoside phosphorylase (PNP), 5'nucleotidase (5'NT), ecto-5'NT, hypoxanthine-guanine phosphoribosyltransferase(HGPRT), adenine phosphoribosyltransferase(APRT), adenosine kinase(AK), AMP deaminase (AMPD) and adenyla
Publikováno v:
Journal of Chromatography B: Biomedical Sciences and Applications. 225:369-379
An isotachophoretic system is described for the separation and identification of urinary purine and pyrimidine bases and nucleosides. For a better discrimination and interpretation of the UV profiles, well-defined non-UV-absorbing substances were int
Publikováno v:
Leukemia Research. 7:451-480
A number of inborn errors of purine metabolism have been associated with immunodeficiency diseases. From studies to the possible mechanism(s) leading to the defects in the immune system, it appeared that the accumulation of deoxyATP and deoxyGTP and
Publikováno v:
Clinica Chimica Acta. 78:145-150
When measuring with the spectrophotometric UDP-Glu consumption test, the galactose-1-phosphate uridyltransferase (Gal-PUT) activity in erythrocyte lysates from a 22-month-old infant with a late onset form of galactosemia was found to be approximately