Zobrazeno 1 - 10
of 33
pro vyhledávání: '"W. G. Ng"'
Publikováno v:
Journal of inherited metabolic disease. 26(1)
Summary: We report two unrelated cases of adult galactosaemia females with normal ovarian function and Q188R/R333G mutations. Clinical history has been followed for 40 years. Biochemical finding in one patient are consistent with the presence of smal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ea7f2a5fcf4a3ad91f61679deff0635
https://pubmed.ncbi.nlm.nih.gov/12872845
https://pubmed.ncbi.nlm.nih.gov/12872845
Publikováno v:
Cancer. 74(4)
Galactose metabolism may be a risk factor for ovarian cancer based upon evidence that galactose causes ovarian failure and that ovarian cancer arises from premature ovarian failure. This study examines galactose-1-phosphate uridyl transferase (GALT)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::500c21b35c5a749bfcecf1796e624cbe
https://pubmed.ncbi.nlm.nih.gov/8055453
https://pubmed.ncbi.nlm.nih.gov/8055453
Publikováno v:
Journal of Inherited Metabolic Disease. 6:89-94
This report concerns a patient with severe congenital lacticacidosis associated with proximal renal tubular acidosis and cystinuria. Enzyme studies with cultured skin fibroblasts obtained from the patient revealed zero pyruvate carboxylase activity,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68ccd763d2e89527d1cb1759689c9205
https://doi.org/10.1007/bf01800731
https://doi.org/10.1007/bf01800731
Publikováno v:
Clinical Chemistry. 25:1289-1292
We describe a circular (radial) thin-layer chromatographic procedure for separating urinary oligosaccharides. Results were better than those obtained by a single linear development. Bands and specific patterns were finely resolved for various known o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b6902b8d5d8d7796e004a24fc308fd9e
https://doi.org/10.1093/clinchem/25.7.1289
https://doi.org/10.1093/clinchem/25.7.1289
Publikováno v:
Pediatrics. 68:448-452
Published reports100,102,108 indicate that the degree of success attained in the treatment of infants with urea cycle disorders has not been completely satisfactory. Some new approaches in dietary management, using a combination of arginine, benzoate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69dfb09f7f0ee587e6de7e10de442dda
https://doi.org/10.1542/peds.68.3.448
https://doi.org/10.1542/peds.68.3.448
Publikováno v:
Journal of Inherited Metabolic Disease. 1:145-151
A low activity galactose-1-phosphate uridyl transferase (transferase) variant in a newborn infant has been demonstrated by biochemical studies in erythrocytes and cultured skin fibroblasts. The newborn infant was a galactosaemic suspect identified in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d54622036b53bff9506102a082cb7918
https://doi.org/10.1007/bf01805583
https://doi.org/10.1007/bf01805583
Publikováno v:
Somatic Cell Genetics. 5:363-371
Hybrid cell clones between mouse cells deficient in hypoxanthine phosphoribosyltransferase and human diploid cells were analyzed for the expression of human uridine diphosphate galactose-4-epimerase (UDPGal-4-epimerase, EC 5.1.3.2) and for the segreg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::47cd5068af97744b301ad188be90a25c
https://doi.org/10.1007/bf01538848
https://doi.org/10.1007/bf01538848
Publikováno v:
Endocrinology. 70:333-339
Some samples of starved yeast incubated at 37 C at a pH below 5 and with glucose as substrate show a considerable decrease in oxygen consumption when inorganic phosphate is added. This depression can be prevented by addition of tetraiodothyropropioni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9903ce1cedde49ebd5e74887aee6bfaa
https://doi.org/10.1210/endo-70-3-333
https://doi.org/10.1210/endo-70-3-333
Publikováno v:
Journal of Inherited Metabolic Disease. 1:9-11
Once considered a "frontier' procedure, prenatal diagnosis via amniocentesis, fibroblast cultures and enzyme activity determinations are now regularly done in some centres. Where potentially lethal inherited disorders have previously been recognized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0770c871682e0b6661ed260f8ee1c5e3
https://doi.org/10.1007/bf01805706
https://doi.org/10.1007/bf01805706
Publikováno v:
Cytogenetics and cell genetics. 38(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d5802420045c7c597b4b07bb68e149a5
https://pubmed.ncbi.nlm.nih.gov/6705569
https://pubmed.ncbi.nlm.nih.gov/6705569