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carnitine/atrofi

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Role of Perhexiline in Hypertrophic Cardiomyopathy

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The Synergistic Effect of Hypoglycemic Index Diet on Refractory Schizophrenia

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A low glycemic index diet (LGIT) is a modification of a ketogenic diet (KD) that includes low carbohydrate, medium protein, and high fat intake.It is a potential new intervention for refractory schizophrenia.The possible mechanism is that relatively low and stable blood sugar levels trigger the

Effects of WB-EMS and Specific Dietary Supplements on Cancer Patients

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Biomarker for Cystinosis Disease: BioCystinosis (BioCystinosis)

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Cystinosis is a rare, multisystem genetic disorder characterized by the accumulation of an amino acid called cystine in different tissues and organs of the body including the kidneys, eyes, muscles, liver, pancreas and brain. Generally, Cystinosis is broken down into three different forms known as

EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment

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Cobalamin C (Cbl-C) defect is the most common inborn error of cobalamin metabolism causing methylmalonic aciduria and homocystinuria. Cbl-Cdefect is due to impaired activity of MMACHC, a cobalamin trafficking protein, involved in the decyanation of cyanocobalamin as well as in the dealkylation of

Valproate and Levocarnitine in Children With Spinal Muscular Atrophy

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Spinal muscular atrophy is an autosomal recessive disease of varying severity that destroys motor neurons, resulting in atrophy and weakness of the voluntary muscles. Around 95% of the cases demonstrate a homozygous deletion/mutation involving exon 7 in SMN1 (survival motor neuron 1), resulting in

Chronic Fatigue Syndrome: A Presumptive Mitochondrial Disorder

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Chronic fatigue syndrome (CFS), also known as myalgic encephalitis (ME), is clinically characterized as a multisystem illness exhibiting debilitating fatigue, musculoskeletal pain, disturbed sleep, and impaired memory and concentration. Its diagnosis is non-specific and symptom based, with no real

Omega-3-fatty Acids on Age-related Macular

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There is a growing amount of basic science data supporting the use of omega 3 fatty acids in AMD. Koto et al. report that eicosapentaenoic acid, a major omega-3 polyunsaturated fatty acid, prevents CNVM in mice. Conner et al. report in Nature Medicine that increased dietary intake of

Effect of NCX4016 on Walking Distance in Patients With Peripheral Arterial Occlusive Disease (PAOD)

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Design of the study This was a prospective, randomized, double-blind, parallel-groups, placebo-controlled study conducted in fortythree clinical sites throughout Europe. 442 patients with peripheral arterial occlusive disease (PAD) at Leriche-Fontaine stage II were treated with NCX 4016 800 mg bid
The pathophysiology of the diabetic nephropathy was initially considered to be merely secondary to a non-immune mechanism, specifically due to metabolic (hyperglycemia) and hemodynamic (glomerular capillary hypertension - mechanical stretching) factors. However, our understanding of the

CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I

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Spinal muscular atrophy (SMA) is a genetic disorder that results in severe muscle weakness. It is one of the most common conditions causing muscle weakness in children. Patients with SMA most often develop weakness as babies or young children. Most people with SMA gradually lose muscle strength and

Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy

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This is a multi-center phase II trial of a combined regimen of oral valproic acid (VPA) and carnitine in patients with Spinal Muscular Atrophy (SMA) 2 to 17 years of age. Cohort 1 is a double-blind placebo-controlled randomized intention to treat protocol for SMA "sitters" 2 - 8 years of age.
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