retinitis pigmentosa/umor

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Emotional Health of People with Visual Impairment Caused by Retinitis Pigmentosa.

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OBJECTIVE To understand the emotional difficulties associated with living with the ocular condition Retinitis Pigmentosa, and to examine the functioning of a self-report instrument used to assess this construct. METHODS The difficulty of goals and tasks in the emotional health domain of the Dutch

[Novel nutritional management regimen for very long-chain acyl-CoA dehydrogenase deficiency].

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We report a novel regimen of nutritional management in 22-year-old woman with myopathic form of very-long-chain acyl-CoA dehydrogenase deficiency. This regimen is based on avoidance of fasting by frequent intake of carbohydrates and substitution of medium chain triglyceride for long- and very

Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria.

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We describe two patients with methylmalonic aciduria and homocystinuria (Cbl C). The disorder was not diagnosed in patient 1 until 4 1/2 years of age; he had a history of fatigue, anorexia, delirium, and spasticity. Moderate megaloblastic bone marrow changes were observed, and there was

Medication-induced mitochondrial damage and disease.

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Since the first mitochondrial dysfunction was described in the 1960s, the medicine has advanced in its understanding the role mitochondria play in health and disease. Damage to mitochondria is now understood to play a role in the pathogenesis of a wide range of seemingly unrelated disorders such as

Mitochondrial dysfunction and molecular pathways of disease.

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Since the first mitochondrial dysfunction was described in the 1960s, the medicine has advanced in its understanding the role mitochondria play in health, disease, and aging. A wide range of seemingly unrelated disorders, such as schizophrenia, bipolar disease, dementia, Alzheimer's disease,

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