Výsledky vyhledávání - "D C, De Vivo"

[Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome]

Autor: J M, Pascual, B, Lecumberri, D, Wang, R, Yang, K, Engelstad, D C, De Vivo

Publikováno v: Revista de neurologia. 38(9)

To define this genetic syndrome.The constellation of infantile epilepsy, acquired microcephaly and hypoglychorrachia is characteristic of glucose transporter type 1 (Glut1) deficiency syndrome, a prototype neurometabolic disorder caused by inheritabl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9dd007a3222b49b9b39fa9990624ed4a
https://pubmed.ncbi.nlm.nih.gov/15152356

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Mitochondrial Dysfunction, Epilepsy, and Antiepileptic Drugs

Autor: C. Nordli, S. DiMauro, D. C. De Vivo

Publikováno v: Mitochondrial Disorders ISBN: 9782817809311

Mitochondria are the subcellular organelles responsible for generating energy that is necessary to conduct cellular work. When mitochondrial function is impaired, energy failure follows. Brain energy failure often is manifested by seizure activity. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e4f60caf6940bfa6a2d5ad96f5c9752b
https://doi.org/10.1007/978-2-8178-0929-8_19

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SIX-MINUTE WALK TEST DEMONSTRATES MOTOR FATIGUE IN SPINAL MUSCULAR ATROPHY

Autor: W. King, J. T. Kissel, J. Montes, D. C. De Vivo, R. S. Finkel

Publikováno v: Neurology. 75:1121-1122

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1124e33bce061b99e8d99aca71005377
https://doi.org/10.1212/wnl.0b013e3181f00304

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Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

Autor: C M, Sue, C, Karadimas, N, Checcarelli, K, Tanji, L C, Papadopoulou, F, Pallotti, F L, Guo, S, Shanske, M, Hirano, D C, De Vivo, R, Van Coster, P, Kaplan, E, Bonilla, S, DiMauro

Publikováno v: Annals of neurology. 47(5)

We screened 41 patients with undiagnosed encephalomyopathies and cytochrome c oxidase (COX) deficiency for mutations in two COX assembly genes, SURF-1 and SCO2; 6 patients had mutations in SURF-1 and 3 had mutations in SCO2. All of the mutations in S

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::250c99f91337128b814ea94ad2dbcf92
https://pubmed.ncbi.nlm.nih.gov/10805329

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Disparity in expression of protein kinase C alpha in human glioma versus glioma-derived primary cell lines: therapeutic implications

Autor: A, Zellner, M R, Fetell, J N, Bruce, D C, De Vivo, K R, O'Driscoll

Publikováno v: Clinical cancer research : an official journal of the American Association for Cancer Research. 4(7)

Intracellular signal transduction by the protein kinase C (PKC) family of enzymes plays a critical role in carcinogenesis and cellular growth regulation. Recent studies have suggested that the PKC isoform alpha may be a critical target for antiglioma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::264982bd66553663289bb73aa0086354
https://pubmed.ncbi.nlm.nih.gov/9676858

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Primary and secondary carnitine deficiency syndromes

Autor: R, Pons, D C, De Vivo

Publikováno v: Journal of child neurology. 10

The objective of this article is to review primary and secondary causes of carnitine deficiency, emphasizing recent advances in our knowledge of fatty acid oxidation. It is now understood that the cellular metabolism of fatty acids requires the cytos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::66fed27f2b2bf2caeb22948f0efe079f
https://pubmed.ncbi.nlm.nih.gov/8576570

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Disorders of Pyruvate Metabolism, the Citric Acid Cycle, and the Respiratory Chain

Autor: D. C. De Vivo, S. Di Mauro

Publikováno v: Inborn Metabolic Diseases ISBN: 9783662026151

Several clinical disorders are recognized in the metabolic pathways summarized in Fig. 1. Clinical, biochemical, and molecular heterogeneity has become the rule rather than the exception with these diverse syndromes. The clinical syndromes may presen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::460134ff1371dc815b40baae89435e81
https://doi.org/10.1007/978-3-662-02613-7_12

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