Mitochondrial myopathies

…, M Zeviani, M Nakagawa, DC DeVivo - Annals of Neurology …, 1985 - Wiley Online Library
DeVivo DC, Uziel G: Disturbances of pyruvate metabolism in neuromuscular diseases. In
Scarlato G, Cerri C (eds): Mitochondrial Pathology in Muscle Disease. Padova, Piccin Medical …

MELAS: an original case and clinical criteria for diagnosis

…, R Defendini, SG Pavlakis, DC DeVivo… - Neuromuscular …, 1992 - Elsevier
We describe the full history and postmortem findings in one of the first identified cases of
mitochondrial encephalomyopathy with stroke-like episodes (MELAS). To clarify diagnostic …

Primary and secondary carnitine deficiency syndromes

R Pons, DC De Vivo - Journal of Child Neurology, 1995 - journals.sagepub.com
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 …

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

…, DL Schotland, M Zupanc, DC DeVivo… - … England Journal of …, 1989 - Mass Medical Soc
We investigated the correlations of deletions of mitochondrial DNA in skeletal muscle with
clinical manifestations of mitochondrial myopathies, a group of disorders defined either by …

[HTML][HTML] Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay

DC De Vivo, RR Trifiletti, RI Jacobson… - … England Journal of …, 1991 - Mass Medical Soc
GLUCOSE (D-glucose) is an essential fuel for the brain and many other tissues. Five
glucose-transporter proteins facilitate the diffusion of glucose across lipophilic plasma membranes. …

MELAS: clinical features, biochemistry, and molecular genetics

…, E Zammarchi, E Bonilla, DC DeVivo… - Annals of Neurology …, 1992 - Wiley Online Library
We studied 23 patients with clinically defined mitochondrial encephalomyopathy, lactic
acidosis, and stroke‐like episodes (MELAS), 25 oligosymptomatic or asymptomatic maternal …

Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial

…, M Hirano, PW Stacpoole, S DiMauro, DC De Vivo - Neurology, 2006 - AAN Enterprises
Objective: To evaluate the efficacy of dichloroacetate (DCA) in the treatment of mitochondrial
myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Background: …

Andersen's syndrome: potassium‐sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

…, LJ Ptacek, SG Pavlakis, DC DeVivo… - Annals of Neurology …, 1994 - Wiley Online Library
Andersen's syndrome is a clinically distinct form of potassium‐sensitive periodic paralysis
associated with cardiac dysrhythmias. The subtle nature of the cardiac and dysmorphic …

Chronic ketosis and cerebral metabolism

DC Devivo, MP Leckie, JS Ferrendelli… - Annals of Neurology …, 1978 - Wiley Online Library
… Appleton DB, DeVivo DC: An animal model for the ketogenic diet. Epilepsia 15:2 11-227,
1974 Atkinson DE, Walton GM: Adenosine triphosphate conservation in metabolic regulation: …

Cytochrome c oxidase deficiency in leigh syndrome

…, M Zeviani, M DiRocco, DC DeVivo… - Annals of …, 1987 - Wiley Online Library
DeVivo DC, Uziel G. Disturbance of pyruvate metabolism in neuromuscular diseases. In: …
DeVivo DC, Tress E, DiMauro S. Cultured human skin fibroblasts and cerebral oxidative …