Zobrazeno 1 - 10
of 203
pro vyhledávání: '"J B Holton"'
Publikováno v:
Developmental Medicine & Child Neurology. 8:279-284
UMMARY Three cases of prolonged neonatal hyperbilirubinaemia have been described with evidence that these were caused by breast feeding. A comparison of serum bilirubin on the 3rd and 6th day of life of 28 breast fed and 23 bottle fed babies indicate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a317d5de88108e50e99be227100652d2
https://doi.org/10.1111/j.1469-8749.1966.tb01748.x
https://doi.org/10.1111/j.1469-8749.1966.tb01748.x
Autor:
J. B. Holton
Publikováno v:
Journal of Inherited Metabolic Disease. 19:3-7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::934551c1ec274c48368b2b05b5b9870d
https://doi.org/10.1007/bf01799341
https://doi.org/10.1007/bf01799341
Publikováno v:
European Journal of Pediatrics. 154:S33-S36
The experience from three different European centres with the prenatal diagnosis of galactose-1-phosphate-uridyltransferase (GALT) deficiency is presented and the question whether or not there is a need for prenatal diagnosis of this disorder is disc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::733319a762c667d0be94cfdf672d03b2
https://doi.org/10.1007/bf02143800
https://doi.org/10.1007/bf02143800
Autor:
L Tyfield, Emma Jane Kirsty Wadsworth, A MacDonald, A Stephenson, Neil Marlow, J B Holton, Julian P.H. Shield
Publikováno v:
Archives of Disease in Childhood. 83:248-250
Aims—To evaluate the cognitive outcome of a cohort of children with galactosaemia in relation to genotype. Methods—The cohort was drawn from children notified to the British Paediatric Surveillance Unit galactosaemia study which ran from 1988 to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a17ccf39623957cb1b4e11f1369f3345
https://doi.org/10.1136/adc.83.3.248
https://doi.org/10.1136/adc.83.3.248
Publikováno v:
Archives of Disease in Childhood. 80:374-376
The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6688d90c668b10eb2ac7d8a3b93ca10
https://doi.org/10.1136/adc.80.4.374
https://doi.org/10.1136/adc.80.4.374
Autor:
J. B. Holton
Publikováno v:
European journal of pediatrics. 154(7 Suppl 2)
There is direct evidence that in galactosemia, due to galactose-1-phosphate uridyltransferase deficiency, galactose, galactose-1-phosphate and galactitol accumulate in the fetus by week 20 of gestation. The metabolic abnormality may develop earlier t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940499fabcea0cb1d6e3a53206d81a33
https://pubmed.ncbi.nlm.nih.gov/7671971
https://pubmed.ncbi.nlm.nih.gov/7671971
Publikováno v:
Journal of inherited metabolic disease. 18(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37aa5c0bc6542fb0c1a227da152b29cf
https://pubmed.ncbi.nlm.nih.gov/7623454
https://pubmed.ncbi.nlm.nih.gov/7623454
Publikováno v:
Journal of medical genetics. 28(4)
The phenylalanine hydroxylase gene locus has been studied in 35 independent phenylketonuric families in the south-west of England using RFLP haplotype patterns and allele specific oligonucleotide probes. Haplotype 3 was the most common pattern on mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7314be67a2a6ae522075f64e5a858caf
https://pubmed.ncbi.nlm.nih.gov/1677425
https://pubmed.ncbi.nlm.nih.gov/1677425
Autor:
R Primavesi, A L Meredith, J B Holton, M J Osborn, L. A. Tyfield, Peter S. Harper, T L Chambers
We describe a family in which four subjects in two generations have a disorder of phenylalanine metabolism. Two first cousins had different biochemical presentations in the neonatal period. The older child was thought to have a more severe form of ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c855308b90941c94c4df45d79aa8ccd0
https://europepmc.org/articles/PMC1017218/
https://europepmc.org/articles/PMC1017218/
