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Mitochondrial dysfunction in autism spectrum disorders: a population-based study.
A minority of cases of autism has been associated with several different organic conditions, including bioenergetic metabolism deficiency. In a population-based study, we screened associated medicalExpand
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Brief Report: High Frequency of Biochemical Markers for Mitochondrial Dysfunction in Autism: No Association with the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene
In the present study we confirm the previously reported high frequency of biochemical markers of mitochondrial dysfunction, namely hyperlactacidemia and increased lactate/pyruvate ratio, in aExpand
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High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme
Cytochrome P450 3A4 (CYP3A4) is a key drug-metabolizing enzyme. Loss-of-function variants have been reported as rare events, and the first demonstration of a CYP3A4 protein lacking functionalExpand
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Nonketotic Hyperglycinemia
Nonketotic hyperglycinemia is a rare metabolic disorder with severe, frequently fatal, neurologic manifestations. Reliable and accurate diagnosis depends on careful interpretation of laboratoryExpand
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Mitochondrial metabolism in Parkinson's disease impairs quality control autophagy by hampering microtubule-dependent traffic
Abnormal presence of autophagic vacuoles is evident in brains of patients with Parkinson's disease (PD), in contrast to the rare detection of autophagosomes in a normal brain. However, the actualExpand
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Genetic basis of Alzheimer's dementia: role of mtDNA mutations
Alzheimer's disease (AD) is the most common neurodegenerative disorder associated to dementia in late adulthood. Amyloid precursor protein, presenilin 1 and presenilin 2 genes have been identified asExpand
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Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation--A case report.
Leber's hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disorder characterized by bilateral loss of central vision, most frequently found in young adult males. In mostExpand
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Pediatric mitochondrial respiratory chain disorders in the Centro region of Portugal.
The present study reviewed mitochondrial respiratory chain disorders diagnosed at the sole tertiary pediatric hospital in the Centro region of Portugal and estimated incidence and prevalence in thisExpand
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Mitochondrial DNA 8993T>G Mutation in a Child With Ornithine Transcarbamylase Deficiency and Leigh Syndrome
MC, female, is the third child of a nonconsanguineous Portuguese couple, born after an uneventful pregnancy and delivery. A positive family history of ornithine transcarbamylase deficiency,Expand
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Influence of apolipoprotein E genotype on blood redox status of Alzheimer's disease patients.
The blood redox status of probable Alzheimer's Disease (AD) patients and control subjects with distinct Apo E genotypes was investigated. It was assessed by measuring the levels of hydroperoxidesExpand
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