Zobrazeno 1 - 10
of 62
pro vyhledávání: '"G N, Thompson"'
Autor:
Charles A. Stanley, Andrew A. M. Morris, Marie-France Robert, Patti Quant, Lyudmila Ashmarina, James V. Leonard, Dmitriy A. Vinarov, Betty Y.L. Hsu, Youssef Boukaftane, Henry M. Miziorko, G. N. Thompson, Grant A. Mitchell, Luigi Bouchard, Shupei Wang, Avihu Boneh
Publikováno v:
Scopus-Elsevier
Hereditary deficiency of mitochondrial HMG-CoA synthase (mHS, OMIM 600234) is a poorly defined, treatable, probably underdiagnosed condition that can cause episodes of severe hypoketotic hypoglycemia. We present clinical follow-up and molecular analy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7005490af0872b211ccc2bb586a759bf
https://doi.org/10.1203/00006450-200103000-00005
https://doi.org/10.1203/00006450-200103000-00005
Publikováno v:
Journal of Inherited Metabolic Disease. 17:74-80
The effect of fasting on plasma concentrations of fatty acids has been determined in four children with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. In addition, the in vivo rate of octanoate oxidation was measured, using [1-13C]octanoate.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b3a56ab2a3c7cae228a5c11fb09fb22
https://doi.org/10.1007/bf00735398
https://doi.org/10.1007/bf00735398
Publikováno v:
Journal of Inherited Metabolic Disease. 16:942-949
Succinic semialdehyde dehydrogenase (SSAD) is an enzyme involved in the turnover of the neurotransmitter 4-aminobutyrate (GABA). Deficiency of SSAD results in developmental delay, ataxia, seizures and 4-hydroxybutyric aciduria. We have developed a si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a382767b7b4f033479d41c550230831f
https://doi.org/10.1007/bf00711509
https://doi.org/10.1007/bf00711509
Autor:
G N, THOMPSON
Publikováno v:
The American journal of psychiatry. 102
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::262889218c935ea2fb246e02440a43fd
https://pubmed.ncbi.nlm.nih.gov/21007690
https://pubmed.ncbi.nlm.nih.gov/21007690
Autor:
W R, ROSANOFF, G N, THOMPSON
Publikováno v:
Annals of western medicine and surgery. 1(10)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0dc4ecff8ed6cd7e43e6585b72327772
https://pubmed.ncbi.nlm.nih.gov/20272387
https://pubmed.ncbi.nlm.nih.gov/20272387
Autor:
G N, THOMPSON
Publikováno v:
Bulletin of the Los Angeles Neurological Society. 12(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2f1095863f98e3666b8994c42d36d401
https://pubmed.ncbi.nlm.nih.gov/20254477
https://pubmed.ncbi.nlm.nih.gov/20254477
Autor:
G N, THOMPSON, S W, FRIEDMAN
Publikováno v:
Bulletin of the Los Angeles Neurological Society. 11(3-4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::065c1fee62996c1bcf868627fc705e29
https://pubmed.ncbi.nlm.nih.gov/20285704
https://pubmed.ncbi.nlm.nih.gov/20285704
Publikováno v:
European Journal of Pediatrics. 151:196-199
A 25-year-old woman with tyrosinaemia type II was treated from the 5th week of pregnancy with a protein-restricted diet supplemented with a tyrosine/phenylalanine-free amino acid mixture. Tyrosine concentrations were maintained in the range 100-200 m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb58903260b97103c19093aa907de9d
https://doi.org/10.1007/bf01954383
https://doi.org/10.1007/bf01954383
Publikováno v:
Archives of Disease in Childhood. 66:1346-1349
The transport characteristics of the placenta, which favour higher phenylalanine concentrations in the fetus than in the mother, and regression data of head circumference at birth against phenylalanine concentration at conception in maternal phenylke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51ea814f3dc11e52c7c713aedf779149
https://doi.org/10.1136/adc.66.11.1346
https://doi.org/10.1136/adc.66.11.1346
Autor:
D. Halliday, G. N. Thompson, J. M. Saudubray, G.C. Ford, R.A. Chalmers, Stanislas Lyonnet, J. L. Bresson, J.H. Walter, James V. Leonard
Publikováno v:
Metabolism. 39:1133-1137
Amino acids are widely regarded as the most important sources of propionate in disorders of propionate metabolism. Propionate production was measured in the fasting state by continuous infusion of sodium [1-13C]propionate in three children with methy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2f5b1bd71b45dc3205a11dd49d81364
https://doi.org/10.1016/0026-0495(90)90084-p
https://doi.org/10.1016/0026-0495(90)90084-p