Zobrazeno 1 - 7
of 7
pro vyhledávání: '"E.Ann Burgess"'
Publikováno v:
Clinica Chimica Acta. 61:215-218
A complete absence of plasma carnosinase activity was observed in a series of patients with proven urea cycle defects. This finding could not be explained by age of patients, low protein intake, or inhibition of the enzyme by glutamine or carbamyl ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a961198e78aa06324021ec031fda7f5
https://doi.org/10.1016/0009-8981(75)90317-4
https://doi.org/10.1016/0009-8981(75)90317-4
Publikováno v:
The American Journal of Medicine. 45:826-838
The mode of presentation and the clinical course in seven new cases of fructosaemia are described. Two main categories are recognized. The introduction of fructose (sucrose) into the diet, at under six months of age, results in vomiting, anorexia, fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b193f1c334e453a2eb2301c020a583e7
https://doi.org/10.1016/0002-9343(68)90181-2
https://doi.org/10.1016/0002-9343(68)90181-2
Publikováno v:
American Journal of Obstetrics and Gynecology. 120:560-562
ARGININOSUCCINIC aciduria (ASAuria) is an autosomal recessive disease resulting from a severe deficiency of argininosuccinic acid (ASA) lyase (Enzyme Commission 4321)) the urea cycle enzyme responsible for the cleavage of ASA into arginine and fumari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85bca698cc13435e0f6d05de9c191aef
https://doi.org/10.1016/0002-9378(74)90639-5
https://doi.org/10.1016/0002-9378(74)90639-5
Publikováno v:
Journal of inherited metabolic disease. 3(3)
We report here the results of a study of three unrelated patients, K., M. and R., each of whom died in the neonatal period in St Sophia's Children's Hospital, Athens, Greece, after a normal pregnancy and delivery. Liver functions tests and blood cult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::251fc9ada1e09155189f2156d900f3f2
https://pubmed.ncbi.nlm.nih.gov/6775143
https://pubmed.ncbi.nlm.nih.gov/6775143
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 47(3)
The urinary excretion of argininosuccinic acid in normal individuals and in heterozygotes for argininosuccinic-aciduria has been investigated. It was found that, contrary to what has been supposed, normal urine contains small but measurable quantitie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506c0b8e52ee116932ab1605aa0169e2
https://pubmed.ncbi.nlm.nih.gov/4744836
https://pubmed.ncbi.nlm.nih.gov/4744836
Publikováno v:
The Lancet. 288:1415-1416
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::610d132905b5efd58d7c2e9d0c7766c7
https://doi.org/10.1016/s0140-6736(66)90446-6
https://doi.org/10.1016/s0140-6736(66)90446-6
Publikováno v:
The Lancet. 289:277-278
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f622bee240c0764710a2fbdc0fabecb
https://doi.org/10.1016/s0140-6736(67)91336-0
https://doi.org/10.1016/s0140-6736(67)91336-0