Meet Traci Medford-Rosow
Author Donates Royalties from Book about LHON Patient It was by coincidence that that Traci Medford-Rosow met the subject of her latest book. ...
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Barth Syndrome
What is Barth syndrome? Barth syndrome (BTHS) is an X-linked, multisystem mitochondrial disease, also referred to as 3-Methylglutaconic...
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Beta-oxidation Defects See LCAD, LCHAD, MAD, MCAD, SCAD, SCHAD, VLCAD Treatment: High carbohydrate-low fat diet, administration of medium-chain...
Read: Beta-Oxidation DefectsCarnitine-Acyl-Carnitine Deficiency
Carnitine-Acyl-Carnitine Deficiency Symptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin...
Read: Carnitine-Acyl-Carnitine DeficiencyCarnitine Deficiency
Carnitine Deficiency Symptoms: Seizures, apnea, bradycardia, vomiting, lethargy, coma, enlarged liver, limb weakness, myoglobin in the urine,...
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Complex II Deficiency Long Name: Succinate dehydrogenase deficiency Symptoms: Encephalomyopathy and various manifestations, including failure...
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Complex III Deficiency Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency Symptoms: Four major forms: Fatal infantile...
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Complex IV Deficiency / COX Deficiency Long Name: Cytochrome c oxidase deficiency is caused by a defect in Complex IV of the respiratory chain....
Read: Complex IV Deficiency / COX DeficiencyComplex V Deficiency
Complex V Deficiency Long Name: ATP synthase deficiency Symptoms: Slow, progressive myopathy Links:...
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