Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Joel Hutzler"'
Publikováno v:
Journal of Inherited Metabolic Disease. 6:173-177
Hair roots have been analysed in a large kindred with X-linked ichthyosis associated with steroid sulphatase deficiency. Enzyme activity in individual hair roots was assayed for the steroid sulphatase:neutral alpha-glucosidase ratio, the latter servi
Autor:
Joel Hutzler, Joseph Dancis
Publikováno v:
Biochimica et Biophysica Acta (BBA) - General Subjects. 675:411-415
The metabolism of D- and L-pipecolic acid has been investigated in rabbits and rats. A rapid evolution of 14CO2 followed the injection of either D- or L-pipe[6-14C]colic acid into rabbits. Rabbit kidney slices degraded to CO2 both isomers of lysine a
Publikováno v:
Biochimica et Biophysica Acta (BBA) - General Subjects. 882:254-257
Purified rat peroxisomes have been reported to oxidize D -pipecolic acid and the pipecolaturia of Zellweger syndrome has been attributed to the absence of peroxisomes. The logical consequences would be excesses of D -pipecolic acid in the urine of pa
Autor:
Joseph Dancis, Joel Hutzler
Publikováno v:
Biochimica et Biophysica Acta (BBA) - General Subjects. 158:62-69
The ability of human tissues to convert lysine and α-ketoglutarate to saccharopine [ e-N-( l -glutaryl -2)- l -lysine ] has been investigated vitro. Liver is the most effective organ, though some activity could be demonstrated in several other tissu
Publikováno v:
Pediatrics. 39:813-817
The metabolism of the peripheral leucocyte has been studied in a child presenting with mental retardation and hypervalinemia. A defect in the transamination of valine was demonstrated. Evidence is presented that the transamination of value is depende
Publikováno v:
Biochemical Medicine. 2:407-411
The enzyme defect in maple syrup urine disease and in its varient form, intermittent branched-chain ketonuria, is demonstrable in skin fibroblast cultures derived from patients with this disease. In both instances there is considerable reduction in t
Publikováno v:
Biochimica et Biophysica Acta. 78:85-90
Thin-layer chromatography has been applied to the dinitrophenylhydrazones of α-ketoacids. Rapid, effective separations are obtained, and have been used in obtaining spectrophotometric data on the dinitrophenylhydrazones of pyruvic acid and the branc
Publikováno v:
Pediatrics. 32:234-238
The metabolism of the three branched-chain amino acids has been investigated in vitro, using the peripheral leukocyte. The normal leukocyte can transaminate and decarboxylate the three amino acids. These functions are demonstrable at birth. Five case
Publikováno v:
New England Journal of Medicine. 276:84-89
MAPLE-syrup-urine disease (branched-chain ketonuria) is a genetic disorder with a well defined biochemical defect.1 Symptoms of anorexia, vomiting, hypertonicity and occasionally convulsions appear...
Publikováno v:
Pediatric research. 10(7)
Lysine-ketoglutarate reductase (EC. 1.5.1.8) deficiency in skin fibroblasts has been previously reported in patients with familial hyperlysinemia, providing an adequate explanation for the biochemical derangements noted clinically. In the present stu