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The in-depth evaluation of suspected mitochondrial disease.
The aim of this work is to facilitate the diagnosis of mitochondrial disease by geneticists, neurologists, and other metabolic specialists who face the challenge of evaluating patients of all ages with suspected mitochondrial disease. Expand
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 majorExpand
A modern approach to the treatment of mitochondrial disease
It is not yet proven that these therapies truly alter the course of the disease, and some experts may choose not to use these medications, but based on clinical experience and judgment, the evidence of their effectiveness does not rise to the level required for universal use. Expand
Cytokines in human milk.
There was considerable variability between individual women, and women delivering preterm had lower levels of several cytokines in colostrum than women delivering at term, yet, cytokine levels remained high months to years into lactation, providing immunological benefit to the breastfed infant/child. Expand
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Mutations of MTOR were associated with a spectrum of brain overgrowth phenotypes extending from FCD type 2a to diffuse megalencephaly, distinguished by different mutations and levels of mosaicism. Expand
Cerebral MRI abnormalities associated with vigabatrin therapy
Purpose:  Investigate whether patients on vigabatrin demonstrated new‐onset and reversible T2‐weighted magnetic resonance imaging (MRI) abnormalities.
The genetics of Leigh syndrome and its implications for clinical practice and risk management
Although the disease is usually diagnosed within the first year of life, it is important to note that recent studies reveal phenotypic heterogeneity, with some patients having evidence of in utero presentation and others having adult-onset symptoms. Expand
Mitochondrial Disease: A Practical Approach for Primary Care Physicians
Greater familiarity among primary care physicians with the protean manifestations of mitochondrial disease will facilitate the proper diagnosis and management of this growing cohort of pediatric patients who present across all specialties. Expand
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
This statement is intended for physicians who are engaged in diagnosing and treating patients with suspected or demonstrated mitochondrial disease and to provide recommendations for optimal diagnosis and treatment. Expand
Polymerase gamma disease through the ages.
The term Ecogenetics is introduced in the context these features of POLG disease, to emphasize the important interactions between genes and environment in determining the expression of mitochondrial disease. Expand