Zobrazeno 1 - 10 of 30 pro vyhledávání: '"D C, DeVivo"'
1
MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect
Autor: T L Chi, D C DeVivo, L Medina, S K Hilal
Publikováno v: AJNR Am J Neuroradiol
MR studies were correlated with biochemical results in nine children who presented with lactic acidosis and/or abnormal MR findings in the basal ganglia. Neurologic development was delayed in all nine children. Seven of these patients were diagnosed
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee7a981c6023d04509277b435116043f
https://doi.org/10.2214/ajr.154.6.2159689
Zobrazit plný text záznamu
2
Stable isotope dilution analysis of 4-hydroxybutyric acid: An accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria
Autor: Lawrence Sweetman, A. K. Hodson, D. C. DeVivo, Kenneth M. Gibson, William L. Nyhan, S. Aramaki, C.A.J.M. Jakobs
Publikováno v: Biological Mass Spectrometry. 19:89-93
A quantitative assay for 4-hydroxybutyric acid was developed using D6-4-hydroxybutyric acid as an internal standard. 4-Hydroxybutyric acid was isolated by liquid chromatography and the amount quantified by selected ion monitoring, ammonia chemical io
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87b154b0c2585f9d153ea5cf89d098fb
https://doi.org/10.1002/bms.1200190207
Zobrazit plný text záznamu
3
Clinical manifestations of mitochondrial DNA depletion
Autor: T H, Vu, M, Sciacco, K, Tanji, C, Nichter, E, Bonilla, S, Chatkupt, P, Maertens, S, Shanske, J, Mendell, M R, Koenigsberger, L, Sharer, E A, Schon, S, DiMauro, D C, DeVivo
Publikováno v: Neurology. 50(6)
We studied five new patients with mitochondrial DNA (mtDNA) depletion to better define the clinical spectrum of this disorder.mtDNA depletion has been associated with myopathy or hepatopathy, or both, in infants and young children. Involvement of the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3b35f0b1d1052b33a0fa69857cbfb3e5
https://pubmed.ncbi.nlm.nih.gov/9633728
Zobrazit plný text záznamu
5
Middle cerebral artery blood velocity and cerebral blood flow in sickle cell disease
Autor: L M Brass, D C DeVivo, Steven G. Pavlakis, Jay P. Mohr, S. Piomelli, Isak Prohovnik
Publikováno v: Stroke. 22(1)
To understand better the relationship between blood velocity measured by transcranial Doppler and cerebral blood flow measured by the 133Xe inhalation method, we examined 23 patients undergoing evaluation in the Comprehensive Sickle Cell Center at Co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f4cee8f81a879245e188324257f3811
https://pubmed.ncbi.nlm.nih.gov/1987669
Zobrazit plný text záznamu
7
Clinical syndromes associated with ragged red fibers
Autor: L P, Rowland, D M, Blake, M, Hirano, S, Di Mauro, E A, Schon, A P, Hays, D C, Devivo
Publikováno v: Revue neurologique. 147(6-7)
Among 40 patients with ragged red fibers in muscle biopsy, all but two met criteria for one of the recognized mitochondrial myopathies: Kearns-Sayre syndrome (6 patients); other ophthalmoplegias (17): MELAS (3); MERRF (2); limb myopathy (5); and exer
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2d20ba0356c86839660fa1fcf26d5d40
https://pubmed.ncbi.nlm.nih.gov/1962052
Zobrazit plný text záznamu
8
Recurrent childhood myoglobinuria
Autor: I, Tein, S, DiMauro, D C, DeVivo
Publikováno v: Advances in pediatrics. 37
Recurrent heritable childhood myoglobinuria is a potentially fatal entity (mortality up to 35%) in which prompt diagnosis and treatment are critical. Sixty childhood cases have been reported between 1910 to 1988, most with undiagnosed etiologies. We
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3a6966a1d9d108e1c1728b2e693c0f61
https://pubmed.ncbi.nlm.nih.gov/2264536
Zobrazit plný text záznamu
9
An Animal Model for the Ketogenic Diet
Autor: D. B. Appleton, D. C. DeVivo
Publikováno v: Epilepsia. 15:211-227
Summary The electrical stimulus necessary to produce a minimal convulsion in adult rats started rising 10 days after they were placed on a high-fat diet, reaching a maximum at about 20 days. The convulsive threshold did not change in animals on a hig
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a2e74ba5b686ec171220b45f4ac4a191
https://doi.org/10.1111/j.1528-1157.1974.tb04943.x
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje