Zobrazeno 1 - 10
of 120
pro vyhledávání: '"J.B. Holton"'
Autor:
D. Burman, J.B. Holton
The sixteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism was held in Bristol from 12th to 14th July, 1978. About 25 invited speakers and 150 participants came from many parts of Europe and North America to consider t
Autor:
J.B. Holton, J.T. Ireland
Following the pattern of previous years the 11th symposium of the S.S.I.E.M. held in the beautiful sylvan surroundings of Sussex Univ ersity, concentrated on a relatively small section of the field of inborn errors. The subject chosen-Inborn Errors
Publikováno v:
The Journal of Pediatrics. 123:1009-1014
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026e6f7998ceff0cccab4bd445b72043
https://doi.org/10.1016/s0022-3476(05)80404-4
https://doi.org/10.1016/s0022-3476(05)80404-4
Publikováno v:
Clinica Chimica Acta. 221:135-142
UDPGlucose (UDPGlc) and UDPGalactose (UDPGal) are nucleotide sugars formed via the galactose metabolic pathway and are essential cofactors for the incorporation of galactose and glucose into complex glycoproteins and glycolipids. It has been proposed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db3ab29060bcd4a154154362fc04326e
https://doi.org/10.1016/0009-8981(93)90028-3
https://doi.org/10.1016/0009-8981(93)90028-3
Publikováno v:
European Journal of Pediatrics. 152:822-827
Thirteen patients with phenylketonuria, detected by neonatal screening and started on diet within 16 days of age, were investigated between 10 and 18 years of age by magnetic resonance imaging (MRI) of the brain. Biochemical control was assessed from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ef6e74f4558833b435669a7e5754d17
https://doi.org/10.1007/bf02073379
https://doi.org/10.1007/bf02073379
Publikováno v:
Journal of Inherited Metabolic Disease. 17:23-26
A very clear-cut reduction in UDP-galactose (UDPGal) levels in erythrocytes, skin fibroblasts and liver of patients with classical galactosaemia has been reported. As UDPGal is the galactosyl donor in glycoprotein and glycolipid synthesis, it has bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be0ee3488a77131c09e930cf1553fb9
https://doi.org/10.1007/bf00735392
https://doi.org/10.1007/bf00735392
Autor:
G. Rylance, A. Green, C. Murdoch-Davis, J.B. Holton, Mary Anne Preece, A. C. J. Hutchesson, J. Allen
Publikováno v:
Journal of inherited metabolic disease. 22(2)
Red cell galactose 1-phosphate (Gal-1-P) concentrations and urinary galactitol excretion have been suggested as biochemical indices of dietary compliance in classical transferase-deficient galactosaemia. We report our experience of measuring both in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee276ab465b65a87b571efbd7768783a
https://pubmed.ncbi.nlm.nih.gov/10234609
https://pubmed.ncbi.nlm.nih.gov/10234609
Autor:
J.B. Holton, J.V. Leonard
Publikováno v:
Lancet (London, England). 344(8932)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e29d4c06eb3f142f297146c879c4284a
https://pubmed.ncbi.nlm.nih.gov/7526095
https://pubmed.ncbi.nlm.nih.gov/7526095
Autor:
J.B. Holton, L. Tyfield
Neonatal screening for phenylketonuria and hypothyroidism is well established in most developed countries but there is no clear agreement on which other disorders, if any, should be added to screening programmes. This article describes the basic prin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::50dea7b5380e2ab427386d45b692ccb3
https://doi.org/10.1016/b978-0-7506-0167-2.50020-0
https://doi.org/10.1016/b978-0-7506-0167-2.50020-0
Autor:
J.B. Holton, L. Tyfield
Publisher Summary This chapter discusses the prenatal diagnosis of inherited metabolic diseases. For many congenital disorders, preventive measures can be initiated only during the pregnancy . Because screening tests available are reliable, relativel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de392b6498f26f3cd1014f1dea5e7899
https://doi.org/10.1016/b978-0-7506-0167-2.50019-4
https://doi.org/10.1016/b978-0-7506-0167-2.50019-4