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of 114
pro vyhledávání: '"W L, Nyhan"'
Autor:
W. L. Nyhan
The Fifth International Symposium on Human Purine and Pyrimidine Metabolism was held in San Diego, California (U. S. A.) in July and August of 1985. Previous meetings in this series were held in Tel Aviv (Israel), Baden (Austria), Madrid (Spain) and
Autor:
S R, Schroeder, M L, Oster-Granite, G, Berkson, J W, Bodfish, G R, Breese, M F, Cataldo, E H, Cook, L S, Crnic, I, DeLeon, W, Fisher, J C, Harris, R H, Horner, B, Iwata, H A, Jinnah, B H, King, J M, Lauder, M H, Lewis, K, Newell, W L, Nyhan, J, Rojahn, G P, Sackett, C, Sandman, F, Symons, R E, Tessel, T, Thompson, D F, Wong
Publikováno v:
Schroeder, SR; Oster-Granite, ML; Berkson, G; Bodfish, JW; Breese, GR; Cataldo, MF; et al.(2001). Self-injurious behavior: gene-brain-behavior relationships.. Mental retardation and developmental disabilities research reviews, 7(1), 3-12. doi: 10.1002/1098-2779(200102)7:1<3::aid-mrdd1002>3.0.co;2-#. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/0km4w2qr
This paper summarizes a conference held at the National Institute of Child Health and Human Development on December 6-7, 1999, on self-injurious behavior [SIB] in developmental disabilities. Twenty-six of the top researchers in the U.S. from this fie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d0b6e654780fb05796a4ffd60b432c9a
http://www.escholarship.org/uc/item/0km4w2qr
http://www.escholarship.org/uc/item/0km4w2qr
Publikováno v:
Clinical chemistry. 45(10)
The mitochondrial DNA polymerase gamma is the principal polymerase required for mitochondrial DNA replication. Primary or secondary deficiencies in the activity of DNA polymerase gamma may lead to mitochondrial DNA depletion. We describe a sensitive
Publikováno v:
Prenatal diagnosis. 19(2)
Holocarboxylase synthetase is one of two enzymes known to be involved in the metabolism of biotin. It catalyses the fixation of biotin to inactive apocarboxylases yielding active carboxylases. Deficiency of this enzyme leads to multiple carboxylase d
Publikováno v:
Annals of neurology. 45(1)
Deficiency of mitochondrial DNA polymerase gamma activity was found in a patient with mtDNA depletion and Alpers' syndrome. Metabolic evaluation revealed fasting hypoglycemia, dicarboxylic aciduria, and reduced activity of the electron transport chai
Autor:
M S, van der Knaap, C, Jakobs, G F, Hoffmann, W L, Nyhan, W O, Renier, J A, Smeitink, C E, Catsman-Berrevoets, O, Hjalmarson, H, Vallance, K, Sugita, C M, Bowe, J T, Herrin, W J, Craigen, N R, Buist, D S, Brookfield, R A, Chalmers
Publikováno v:
Annals of neurology. 45(1)
D-2-Hydroxyglutaric aciduria has been observed in patients with extremely variable clinical symptoms, creating doubt about the existence of a disease entity related to the biochemical finding. An international survey of patients with D-2-hydroxygluta
Publikováno v:
Musclenerve. 21(9)
Abnormal accumulations of lipid droplets, localized predominantly in histochemical type 1 fibers, were observed in fresh frozen sections of muscle biopsies from 25 dogs with myalgia, weakness, and muscle atrophy. Compared to controls, lactic acidemia
Autor:
W L, Nyhan
Publikováno v:
Clinical chemistry. 41(1)
Publikováno v:
Pediatrics. 91(3)
Publikováno v:
Journal of Inherited Metabolic Disease. 24:513-514