Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Persistent hyperphenylalaninaemia"'
Autor:
Lynette Shakespeare, Joyce Allen, Ann-Marie Casbolt, Sheila Ellin, James R. Bonham, Martin Maloney, M. Downing, Gillian Race
Publikováno v:
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 47:567-569
Introduction Newborn screening for phenylketonuria (PKU) can reveal other conditions which lead to an increased blood spot phenylalanine (Phe) concentration. We have investigated the proportion of blood spot samples that gave a positive screen due to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7590402a11c45c003c700b4b2d3f7bba
https://doi.org/10.1258/acb.2010.010083
https://doi.org/10.1258/acb.2010.010083
Autor:
James E. Wraith
Publikováno v:
Current Paediatrics. 4:1-4
Phenylketonuria can be defined as a persistent hyperphenylalaninaemia (> 240 umol/l ) , with associated secondary tyrosine deficiency, and with excretion of phenylketones in the urine of the affected individual. A number of different enzyme deficienc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f8ca66b5e680c31e755dc9ab347878f
https://doi.org/10.1016/0957-5839(94)90002-7
https://doi.org/10.1016/0957-5839(94)90002-7
Publikováno v:
European Journal of Pediatrics. 153:918-919
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::193a302190325b9b5e563ebb558e073b
https://doi.org/10.1007/bf01954748
https://doi.org/10.1007/bf01954748
Autor:
Gert Hansen, Flemming Güttler
Publikováno v:
Scandinavian Journal of Clinical and Laboratory Investigation. 37:717-721
Twenty-seven heterozygotes for phenylketonuria (PKU) and sixteen normal homozygotes were loaded with an amount of L-phenylalanine per body mass = 0.6 mmol/kg. Serum tyrosine concentration increased significantly within 15 min after the intake and the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c80c59a2879a259fe84bb6508a9f61b0
https://doi.org/10.3109/00365517709101855
https://doi.org/10.3109/00365517709101855
Publikováno v:
Journal of Paediatrics and Child Health. 7:179-181
SYNOPSIS The sex ratio in 76 children with an elevated serum phenylalanine level was studied in relation to their mode of ascertainment. The ratio of the sexes in the whole group was equal, but males outnumbered females 9:4 in classical cases of PKU
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0da767c79338c687fc74561aee3965a5
https://doi.org/10.1111/j.1440-1754.1971.tb01052.x
https://doi.org/10.1111/j.1440-1754.1971.tb01052.x
Autor:
Paccanelli S, Elisabetta Riva, Marcello Giovannini, Gian Vincenzo Zuccotti, R. Longhi, M. Vedovello, Silvia Scaglioni, A. Rottoli
Publikováno v:
Journal of Inherited Metabolic Disease. 8:160-160
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d95b0d6b8ad1dee9ab7b74ccfb0e6b
https://doi.org/10.1007/bf01819309
https://doi.org/10.1007/bf01819309