Results 271 to 280 of about 615,187 (312)

Combined Alport Syndrome Type 3A and Mitochondrial Disease Presenting with a Thin Base Membrane and Overt Albuminuria. [PDF]

Intern Med
Nakashima D, Tosaki T, Sasaki T, Honda Y, Yokote S, Mori T, Sohara E, Uchida S, Tsuboi N, Yokoo T.   +9 more
europepmc   +1 more source

Leber's hereditary optic neuropathy and multiple sclerosis: overlap between mitochondrial disease and neuroinflammation. [PDF]

Front Neurol
Rahimi G, Silverman M, Lucas M, Kazerooni L, Yousuf MM, Jafarpour S, Santoro JD.   +6 more
europepmc   +1 more source

Case Report: Aveir implantation in an 8.7-year-old, 25-kg pediatric patient with mitochondrial disease via internal jugular vein. [PDF]

Front Cardiovasc Med
Zhou X, Xu X, He S, Liu Q, Lu T.
europepmc   +1 more source

ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.

Cell Rep
Bordi M, Testa B, Compagnucci C, Colasuonno F, Cipressa F, Betterini E, Mancini A, Carsetti C, Salvatori I, Ferraina C, Yang M, De Cegli R, Del Prete E, Veroni C, Rizza S, Mauri S, Ziviani E, Macchiaiolo M, Vecchio D, Panfili FM, Rizza T, Weber G, Carrozzo R, Ferri A, Campello S, Ballabio A, Frezza C, Cestra G, Tartaglia M, Bartuli A, Cecconi F.   +30 more
europepmc   +1 more source

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Mitochondrial diseases

Best Practice & Research Clinical Obstetrics & Gynaecology, 2002
Mitochondrial disorders are caused by deficient respiratory chain function, resulting in a complex series of pathophysiological events. Genetic counselling is complicated because the respiratory chain subunits are encoded by both nuclear and mitochondrial DNA genes.
Graff, C., Bui, T., Larsson, N.
openaire   +5 more sources

Mitochondrial disease

Current Treatment Options in Neurology, 2001
Mitochondrial diseases are disorders of energy metabolism that include defects of pyruvate metabolism, Krebs cycle, respiratory chain (RC), and fatty acid oxidation (FAO). Treatment of pyruvate metabolism, Krebs cycle, and RC disorders is, in general, disappointing.
Roser, Pons, Darryl C., De Vivo
openaire   +2 more sources

Mitochondrial Diseases

Neurologic Clinics, 1989
Mitochondrial diseases, and particularly mitochondrial myopathies or encephalomyopathies, have drawn increasing attention in the past decade. Initially defined by morphologic changes in muscle ("ragged red fibers" and ultrastructural abnormalities of mitochondria), mitochondrial encephalomyopathies can now be classified according to biochemical defects
M, Zeviani, E, Bonilla, D C, DeVivo, S, DiMauro   +3 more
openaire   +2 more sources

Mitochondrial diseases

2018
Mitochondrial diseases collectively describe a diverse group of heritable disorders that invariably affect mitochondrial respiratory chain function and cellular energy production. Together they represent the most common cause of inherited metabolic disease, may present at any age, have a wide spectrum of clinical manifestations, may be insidious in ...
Ryan L, Davis, Christina, Liang, Carolyn M, Sue   +2 more
openaire   +4 more sources

Mitochondrial disease

The Lancet, 2006
Defects of mitochondrial metabolism cause a wide range of human diseases that include examples from all medical subspecialties. This review updates the topic of mitochondrial diseases by reviewing the most important recent advances in this area. The factors influencing inheritance, maintenance and replication of mtDNA are reviewed and the genotype ...
openaire   +3 more sources

Mitochondrial Diseases in Childhood

Current Molecular Medicine, 2014
Mitochondrial disorders are a group of heterogeneous diseases associated with abnormalities of the oxidative phosphorylation (OXPHOS), the most important source of energy for the cell. The number of mitochondrial syndromes and of identified causative genes is constantly increasing.
Ardissone A., Lamantea E., Invernizzi F., Zeviani M., Genitrini S., Moroni I., Uziel G.   +6 more
openaire   +4 more sources